SNP Links for Protein (Select 148833499) - SNP

Links from Protein

Items: 1 to 20 of 427

<< First< Prev

Page of 22

Next >Last >>

Select item 14892997531.

rs1489299753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10449687 (GRCh38)
X:10417727 (GRCh37)
Canonical SPDI:: NC_000023.11:10449686:G:A
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.10449687G>A, NC_000023.10:g.10417727G>A, NG_008197.2:g.389004C>T, NM_033290.4:c.1685C>T, NM_033290.3:c.1685C>T, NM_000381.4:c.1685C>T, NM_000381.3:c.1685C>T, NM_001347733.2:c.1685C>T, NM_001347733.1:c.1685C>T, NM_001098624.2:c.1685C>T, NM_033289.2:c.1571C>T, NM_033289.1:c.1571C>T, NM_001193277.1:c.1685C>T, NP_150632.1:p.Ala562Val, NP_000372.1:p.Ala562Val, NP_001334662.1:p.Ala562Val, NP_001092094.1:p.Ala562Val, NP_150631.1:p.Ala524Val, NP_001180206.1:p.Ala562Val

Select item 14876624912.

rs1487662491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:10459708 (GRCh38)
X:10427748 (GRCh37)
Canonical SPDI:: NC_000023.11:10459707:A:G
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.10459708A>G, NC_000023.10:g.10427748A>G, NG_008197.2:g.378983T>C, NM_033290.4:c.1385T>C, NM_033290.3:c.1385T>C, NM_000381.4:c.1385T>C, NM_000381.3:c.1385T>C, NM_001347733.2:c.1385T>C, NM_001347733.1:c.1385T>C, NM_001098624.2:c.1385T>C, NM_033289.2:c.1271T>C, NM_033289.1:c.1271T>C, NM_001193277.1:c.1385T>C, NM_033291.1:c.1385T>C, NP_150632.1:p.Met462Thr, NP_000372.1:p.Met462Thr, NP_001334662.1:p.Met462Thr, NP_001092094.1:p.Met462Thr, NP_150631.1:p.Met424Thr, NP_001180206.1:p.Met462Thr

Select item 14861457903.

rs1486145790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:10469817 (GRCh38)
X:10437857 (GRCh37)
Canonical SPDI:: NC_000023.11:10469816:C:T
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10469817C>T, NC_000023.10:g.10437857C>T, NG_008197.2:g.368874G>A, NM_033290.4:c.1165G>A, NM_033290.3:c.1165G>A, NM_000381.4:c.1165G>A, NM_000381.3:c.1165G>A, NM_001347733.2:c.1165G>A, NM_001347733.1:c.1165G>A, NM_001098624.2:c.1165G>A, NM_033289.2:c.1051G>A, NM_033289.1:c.1051G>A, NM_001193277.1:c.1165G>A, NM_001193278.1:c.1318G>A, NM_001193279.1:c.1165G>A, NM_001193280.1:c.1051G>A, NM_033291.1:c.1165G>A, NP_150632.1:p.Glu389Lys, NP_000372.1:p.Glu389Lys, NP_001334662.1:p.Glu389Lys, NP_001092094.1:p.Glu389Lys, NP_150631.1:p.Glu351Lys, NP_001180206.1:p.Glu389Lys, NP_001180207.1:p.Glu440Lys, NP_001180208.1:p.Glu389Lys, NP_001180209.1:p.Glu351Lys

Select item 14837949674.

rs1483794967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:10523156 (GRCh38)
X:10491196 (GRCh37)
Canonical SPDI:: NC_000023.11:10523155:A:G
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.10523156A>G, NC_000023.10:g.10491196A>G, NG_008197.2:g.315535T>C, NM_033290.4:c.692T>C, NM_033290.3:c.692T>C, NM_000381.4:c.692T>C, NM_000381.3:c.692T>C, NM_001347733.2:c.692T>C, NM_001347733.1:c.692T>C, NM_001098624.2:c.692T>C, NM_033289.2:c.578T>C, NM_033289.1:c.578T>C, NM_001193277.1:c.692T>C, NM_001193278.1:c.692T>C, NM_001193279.1:c.692T>C, NM_001193280.1:c.578T>C, NM_033291.1:c.692T>C, NM_001193281.1:c.578T>C, NP_150632.1:p.Ile231Thr, NP_000372.1:p.Ile231Thr, NP_001334662.1:p.Ile231Thr, NP_001092094.1:p.Ile231Thr, NP_150631.1:p.Ile193Thr, NP_001180206.1:p.Ile231Thr, NP_001180207.1:p.Ile231Thr, NP_001180208.1:p.Ile231Thr, NP_001180209.1:p.Ile193Thr

Select item 14836457275.

rs1483645727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10482514 (GRCh38)
X:10450554 (GRCh37)
Canonical SPDI:: NC_000023.11:10482513:G:A
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.10482514G>A, NC_000023.10:g.10450554G>A, NG_008197.2:g.356177C>T, NM_033290.4:c.979C>T, NM_033290.3:c.979C>T, NM_000381.4:c.979C>T, NM_000381.3:c.979C>T, NM_001347733.2:c.979C>T, NM_001347733.1:c.979C>T, NM_001098624.2:c.979C>T, NM_033289.2:c.865C>T, NM_033289.1:c.865C>T, NM_001193277.1:c.979C>T, NM_001193278.1:c.1132C>T, NM_001193279.1:c.979C>T, NM_001193280.1:c.865C>T, NM_033291.1:c.979C>T, NP_150632.1:p.Arg327Cys, NP_000372.1:p.Arg327Cys, NP_001334662.1:p.Arg327Cys, NP_001092094.1:p.Arg327Cys, NP_150631.1:p.Arg289Cys, NP_001180206.1:p.Arg327Cys, NP_001180207.1:p.Arg378Cys, NP_001180208.1:p.Arg327Cys, NP_001180209.1:p.Arg289Cys

Select item 14832608416.

rs1483260841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10567359 (GRCh38)
X:10535399 (GRCh37)
Canonical SPDI:: NC_000023.11:10567358:G:A
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.10567359G>A, NC_000023.10:g.10535399G>A, NG_008197.2:g.271332C>T, NM_033290.4:c.189C>T, NM_033290.3:c.189C>T, NM_000381.4:c.189C>T, NM_000381.3:c.189C>T, NM_001347733.2:c.189C>T, NM_001347733.1:c.189C>T, NM_001098624.2:c.189C>T, NM_033289.2:c.189C>T, NM_033289.1:c.189C>T, NM_001193277.1:c.189C>T, NM_001193278.1:c.189C>T, NM_001193279.1:c.189C>T, NM_001193280.1:c.189C>T, NM_033291.1:c.189C>T, NM_001193281.1:c.189C>T

Select item 14816163357.

rs1481616335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:10455025 (GRCh38)
X:10423065 (GRCh37)
Canonical SPDI:: NC_000023.11:10455024:G:C
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.10455025G>C, NC_000023.10:g.10423065G>C, NG_008197.2:g.383666C>G, NM_033290.4:c.1500C>G, NM_033290.3:c.1500C>G, NM_000381.4:c.1500C>G, NM_000381.3:c.1500C>G, NM_001347733.2:c.1500C>G, NM_001347733.1:c.1500C>G, NM_001098624.2:c.1500C>G, NM_033289.2:c.1386C>G, NM_033289.1:c.1386C>G, NM_001193277.1:c.1500C>G, NM_033291.1:c.1500C>G

Select item 14802646788.

rs1480264678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:10495691 (GRCh38)
X:10463731 (GRCh37)
Canonical SPDI:: NC_000023.11:10495690:C:T
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10495691C>T, NC_000023.10:g.10463731C>T, NG_008197.2:g.343000G>A, NM_033290.4:c.757G>A, NM_033290.3:c.757G>A, NM_000381.4:c.757G>A, NM_000381.3:c.757G>A, NM_001347733.2:c.757G>A, NM_001347733.1:c.757G>A, NM_001098624.2:c.757G>A, NM_033289.2:c.643G>A, NM_033289.1:c.643G>A, NM_001193277.1:c.757G>A, NM_001193278.1:c.910G>A, NM_001193279.1:c.757G>A, NM_001193280.1:c.643G>A, NM_033291.1:c.757G>A, NP_150632.1:p.Val253Ile, NP_000372.1:p.Val253Ile, NP_001334662.1:p.Val253Ile, NP_001092094.1:p.Val253Ile, NP_150631.1:p.Val215Ile, NP_001180206.1:p.Val253Ile, NP_001180207.1:p.Val304Ile, NP_001180208.1:p.Val253Ile, NP_001180209.1:p.Val215Ile

Select item 14777516859.

rs1477751685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: X:10449385 (GRCh38)
X:10417426 (GRCh37)
Canonical SPDI:: NC_000023.11:10449385:G:GAG
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
HGVS:: NC_000023.11:g.10449386_10449387insAG, NC_000023.10:g.10417426_10417427insAG, NG_008197.2:g.389305_389306insTC, NM_033290.4:c.1986_1987insTC, NM_033290.3:c.1986_1987insTC, NM_000381.4:c.1986_1987insTC, NM_000381.3:c.1986_1987insTC, NM_001347733.2:c.1986_1987insTC, NM_001347733.1:c.1986_1987insTC, NM_001098624.2:c.1986_1987insTC, NM_033289.2:c.1872_1873insTC, NM_033289.1:c.1872_1873insTC, NM_001193277.1:c.1986_1987insTC, NM_033291.1:c.*227_*228insTC, NP_150632.1:p.Thr663fs, NP_000372.1:p.Thr663fs, NP_001334662.1:p.Thr663fs, NP_001092094.1:p.Thr663fs, NP_150631.1:p.Thr625fs, NP_001180206.1:p.Thr663fs

Select item 147338522410.

rs1473385224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:10449529 (GRCh38)
X:10417569 (GRCh37)
Canonical SPDI:: NC_000023.11:10449528:T:C
Gene:: MID1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.10449529T>C, NC_000023.10:g.10417569T>C, NG_008197.2:g.389162A>G, NM_033290.4:c.1843A>G, NM_033290.3:c.1843A>G, NM_000381.4:c.1843A>G, NM_000381.3:c.1843A>G, NM_001347733.2:c.1843A>G, NM_001347733.1:c.1843A>G, NM_001098624.2:c.1843A>G, NM_033289.2:c.1729A>G, NM_033289.1:c.1729A>G, NM_001193277.1:c.1843A>G, NM_033291.1:c.*84A>G, NP_150632.1:p.Ile615Val, NP_000372.1:p.Ile615Val, NP_001334662.1:p.Ile615Val, NP_001092094.1:p.Ile615Val, NP_150631.1:p.Ile577Val, NP_001180206.1:p.Ile615Val

Select item 147288111411.

rs1472881114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10449485 (GRCh38)
X:10417525 (GRCh37)
Canonical SPDI:: NC_000023.11:10449484:G:A
Gene:: MID1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10449485G>A, NC_000023.10:g.10417525G>A, NG_008197.2:g.389206C>T, NM_033290.4:c.1887C>T, NM_033290.3:c.1887C>T, NM_000381.4:c.1887C>T, NM_000381.3:c.1887C>T, NM_001347733.2:c.1887C>T, NM_001347733.1:c.1887C>T, NM_001098624.2:c.1887C>T, NM_033289.2:c.1773C>T, NM_033289.1:c.1773C>T, NM_001193277.1:c.1887C>T, NM_033291.1:c.*128C>T

Select item 147052333112.

rs1470523331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10567370 (GRCh38)
X:10535410 (GRCh37)
Canonical SPDI:: NC_000023.11:10567369:G:A
Gene:: MID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10567370G>A, NC_000023.10:g.10535410G>A, NG_008197.2:g.271321C>T, NM_033290.4:c.178C>T, NM_033290.3:c.178C>T, NM_000381.4:c.178C>T, NM_000381.3:c.178C>T, NM_001347733.2:c.178C>T, NM_001347733.1:c.178C>T, NM_001098624.2:c.178C>T, NM_033289.2:c.178C>T, NM_033289.1:c.178C>T, NM_001193277.1:c.178C>T, NM_001193278.1:c.178C>T, NM_001193279.1:c.178C>T, NM_001193280.1:c.178C>T, NM_033291.1:c.178C>T, NM_001193281.1:c.178C>T, NP_150632.1:p.Arg60Trp, NP_000372.1:p.Arg60Trp, NP_001334662.1:p.Arg60Trp, NP_001092094.1:p.Arg60Trp, NP_150631.1:p.Arg60Trp, NP_001180206.1:p.Arg60Trp, NP_001180207.1:p.Arg60Trp, NP_001180208.1:p.Arg60Trp, NP_001180209.1:p.Arg60Trp

Select item 146643467813.

rs1466434678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10469726 (GRCh38)
X:10437766 (GRCh37)
Canonical SPDI:: NC_000023.11:10469725:G:A
Gene:: MID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10469726G>A, NC_000023.10:g.10437766G>A, NG_008197.2:g.368965C>T, NM_033290.4:c.1256C>T, NM_033290.3:c.1256C>T, NM_000381.4:c.1256C>T, NM_000381.3:c.1256C>T, NM_001347733.2:c.1256C>T, NM_001347733.1:c.1256C>T, NM_001098624.2:c.1256C>T, NM_033289.2:c.1142C>T, NM_033289.1:c.1142C>T, NM_001193277.1:c.1256C>T, NM_001193278.1:c.1409C>T, NM_001193279.1:c.1256C>T, NM_001193280.1:c.1142C>T, NM_033291.1:c.1256C>T, NP_150632.1:p.Thr419Ile, NP_000372.1:p.Thr419Ile, NP_001334662.1:p.Thr419Ile, NP_001092094.1:p.Thr419Ile, NP_150631.1:p.Thr381Ile, NP_001180206.1:p.Thr419Ile, NP_001180207.1:p.Thr470Ile, NP_001180208.1:p.Thr419Ile, NP_001180209.1:p.Thr381Ile

Select item 146579142714.

rs1465791427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10567047 (GRCh38)
X:10535087 (GRCh37)
Canonical SPDI:: NC_000023.11:10567046:G:A
Gene:: MID1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.10567047G>A, NC_000023.10:g.10535087G>A, NG_008197.2:g.271644C>T, NM_033290.4:c.501C>T, NM_033290.3:c.501C>T, NM_000381.4:c.501C>T, NM_000381.3:c.501C>T, NM_001347733.2:c.501C>T, NM_001347733.1:c.501C>T, NM_001098624.2:c.501C>T, NM_033289.2:c.501C>T, NM_033289.1:c.501C>T, NM_001193277.1:c.501C>T, NM_001193278.1:c.501C>T, NM_001193279.1:c.501C>T, NM_001193280.1:c.501C>T, NM_033291.1:c.501C>T, NM_001193281.1:c.501C>T

Select item 146437571415.

rs1464375714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:10567037 (GRCh38)
X:10535077 (GRCh37)
Canonical SPDI:: NC_000023.11:10567036:G:A
Gene:: MID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.10567037G>A, NC_000023.10:g.10535077G>A, NG_008197.2:g.271654C>T, NM_033290.4:c.511C>T, NM_033290.3:c.511C>T, NM_000381.4:c.511C>T, NM_000381.3:c.511C>T, NM_001347733.2:c.511C>T, NM_001347733.1:c.511C>T, NM_001098624.2:c.511C>T, NM_033289.2:c.511C>T, NM_033289.1:c.511C>T, NM_001193277.1:c.511C>T, NM_001193278.1:c.511C>T, NM_001193279.1:c.511C>T, NM_001193280.1:c.511C>T, NM_033291.1:c.511C>T, NM_001193281.1:c.511C>T, NP_150632.1:p.Arg171Trp, NP_000372.1:p.Arg171Trp, NP_001334662.1:p.Arg171Trp, NP_001092094.1:p.Arg171Trp, NP_150631.1:p.Arg171Trp, NP_001180206.1:p.Arg171Trp, NP_001180207.1:p.Arg171Trp, NP_001180208.1:p.Arg171Trp, NP_001180209.1:p.Arg171Trp

Select item 146428648916.

rs1464286489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:10454924 (GRCh38)
X:10422964 (GRCh37)
Canonical SPDI:: NC_000023.11:10454923:A:C
Gene:: MID1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.10454924A>C, NC_000023.10:g.10422964A>C, NG_008197.2:g.383767T>G, NM_033290.4:c.1601T>G, NM_033290.3:c.1601T>G, NM_000381.4:c.1601T>G, NM_000381.3:c.1601T>G, NM_001347733.2:c.1601T>G, NM_001347733.1:c.1601T>G, NM_001098624.2:c.1601T>G, NM_033289.2:c.1487T>G, NM_033289.1:c.1487T>G, NM_001193277.1:c.1601T>G, NM_033291.1:c.1601T>G, NP_150632.1:p.Val534Gly, NP_000372.1:p.Val534Gly, NP_001334662.1:p.Val534Gly, NP_001092094.1:p.Val534Gly, NP_150631.1:p.Val496Gly, NP_001180206.1:p.Val534Gly

Select item 146388212917.

rs1463882129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:10449524 (GRCh38)
X:10417564 (GRCh37)
Canonical SPDI:: NC_000023.11:10449523:G:A,NC_000023.11:10449523:G:T
Gene:: MID1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.10449524G>A, NC_000023.11:g.10449524G>T, NC_000023.10:g.10417564G>A, NC_000023.10:g.10417564G>T, NG_008197.2:g.389167C>T, NG_008197.2:g.389167C>A, NM_033290.4:c.1848C>T, NM_033290.4:c.1848C>A, NM_033290.3:c.1848C>T, NM_033290.3:c.1848C>A, NM_000381.4:c.1848C>T, NM_000381.4:c.1848C>A, NM_000381.3:c.1848C>T, NM_000381.3:c.1848C>A, NM_001347733.2:c.1848C>T, NM_001347733.2:c.1848C>A, NM_001347733.1:c.1848C>T, NM_001347733.1:c.1848C>A, NM_001098624.2:c.1848C>T, NM_001098624.2:c.1848C>A, NM_033289.2:c.1734C>T, NM_033289.2:c.1734C>A, NM_033289.1:c.1734C>T, NM_033289.1:c.1734C>A, NM_001193277.1:c.1848C>T, NM_001193277.1:c.1848C>A, NM_033291.1:c.*89C>T, NM_033291.1:c.*89C>A

Select item 145915917518.

rs1459159175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:10523137 (GRCh38)
X:10491177 (GRCh37)
Canonical SPDI:: NC_000023.11:10523136:C:T
Gene:: MID1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.10523137C>T, NC_000023.10:g.10491177C>T, NG_008197.2:g.315554G>A, NM_033290.4:c.711G>A, NM_033290.3:c.711G>A, NM_000381.4:c.711G>A, NM_000381.3:c.711G>A, NM_001347733.2:c.711G>A, NM_001347733.1:c.711G>A, NM_001098624.2:c.711G>A, NM_033289.2:c.597G>A, NM_033289.1:c.597G>A, NM_001193277.1:c.711G>A, NM_001193278.1:c.711G>A, NM_001193279.1:c.711G>A, NM_001193280.1:c.597G>A, NM_033291.1:c.711G>A, NM_001193281.1:c.597G>A

Select item 145719274519.

rs1457192745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:10449624 (GRCh38)
X:10417664 (GRCh37)
Canonical SPDI:: NC_000023.11:10449623:T:C
Gene:: MID1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.10449624T>C, NC_000023.10:g.10417664T>C, NG_008197.2:g.389067A>G, NM_033290.4:c.1748A>G, NM_033290.3:c.1748A>G, NM_000381.4:c.1748A>G, NM_000381.3:c.1748A>G, NM_001347733.2:c.1748A>G, NM_001347733.1:c.1748A>G, NM_001098624.2:c.1748A>G, NM_033289.2:c.1634A>G, NM_033289.1:c.1634A>G, NM_001193277.1:c.1748A>G, NP_150632.1:p.Asn583Ser, NP_000372.1:p.Asn583Ser, NP_001334662.1:p.Asn583Ser, NP_001092094.1:p.Asn583Ser, NP_150631.1:p.Asn545Ser, NP_001180206.1:p.Asn583Ser

Select item 145450508520.

rs1454505085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:10482572 (GRCh38)
X:10450612 (GRCh37)
Canonical SPDI:: NC_000023.11:10482571:C:T
Gene:: MID1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.10482572C>T, NC_000023.10:g.10450612C>T, NG_008197.2:g.356119G>A, NM_033290.4:c.921G>A, NM_033290.3:c.921G>A, NM_000381.4:c.921G>A, NM_000381.3:c.921G>A, NM_001347733.2:c.921G>A, NM_001347733.1:c.921G>A, NM_001098624.2:c.921G>A, NM_033289.2:c.807G>A, NM_033289.1:c.807G>A, NM_001193277.1:c.921G>A, NM_001193278.1:c.1074G>A, NM_001193279.1:c.921G>A, NM_001193280.1:c.807G>A, NM_033291.1:c.921G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 427

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity