SNP Links for Protein (Select 45331213) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:6015081 (GRCh38)
9:6015081 (GRCh37)
Canonical SPDI:: NC_000009.12:6015080:T:C
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.6015081T>C, NC_000009.11:g.6015081T>C, NM_012416.4:c.527A>G, NM_012416.3:c.527A>G, NP_036548.1:p.His176Arg

Select item 147964561214.

rs1479645612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:6015336 (GRCh38)
9:6015336 (GRCh37)
Canonical SPDI:: NC_000009.12:6015335:G:A
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.6015336G>A, NC_000009.11:g.6015336G>A, NM_012416.4:c.272C>T, NM_012416.3:c.272C>T, NP_036548.1:p.Ala91Val

Select item 147863714915.

rs1478637149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:6014087 (GRCh38)
9:6014087 (GRCh37)
Canonical SPDI:: NC_000009.12:6014086:C:T
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.6014087C>T, NC_000009.11:g.6014087C>T, NM_012416.4:c.1521G>A, NM_012416.3:c.1521G>A, NM_001243202.2:c.465G>A, NM_001243202.1:c.465G>A, NM_001243203.2:c.*199G>A, NM_001243203.1:c.*199G>A, NR_024094.1:n.498G>A, NR_024095.1:n.439G>A, XM_047423233.1:c.285G>A

Select item 147820427216.

rs1478204272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:6014459 (GRCh38)
9:6014459 (GRCh37)
Canonical SPDI:: NC_000009.12:6014458:T:A
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.6014459T>A, NC_000009.11:g.6014459T>A, NM_012416.4:c.1149A>T, NM_012416.3:c.1149A>T

Select item 147805840217.

rs1478058402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:6014670 (GRCh38)
9:6014670 (GRCh37)
Canonical SPDI:: NC_000009.12:6014669:A:G
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.6014670A>G, NC_000009.11:g.6014670A>G, NM_012416.4:c.938T>C, NM_012416.3:c.938T>C, NP_036548.1:p.Val313Ala

Select item 147779771618.

rs1477797716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:6014083 (GRCh38)
9:6014083 (GRCh37)
Canonical SPDI:: NC_000009.12:6014082:T:C,NC_000009.12:6014082:T:G
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.6014083T>C, NC_000009.12:g.6014083T>G, NC_000009.11:g.6014083T>C, NC_000009.11:g.6014083T>G, NM_012416.4:c.1525A>G, NM_012416.4:c.1525A>C, NM_012416.3:c.1525A>G, NM_012416.3:c.1525A>C, NM_001243202.2:c.469A>G, NM_001243202.2:c.469A>C, NM_001243202.1:c.469A>G, NM_001243202.1:c.469A>C, NM_001243203.2:c.*203A>G, NM_001243203.2:c.*203A>C, NM_001243203.1:c.*203A>G, NM_001243203.1:c.*203A>C, NR_024094.1:n.502A>G, NR_024094.1:n.502A>C, NR_024095.1:n.443A>G, NR_024095.1:n.443A>C, XM_047423233.1:c.289A>G, XM_047423233.1:c.289A>C, NP_036548.1:p.Ile509Val, NP_036548.1:p.Ile509Leu, NP_001230131.1:p.Ile157Val, NP_001230131.1:p.Ile157Leu, XP_047279189.1:p.Ile97Val, XP_047279189.1:p.Ile97Leu

Select item 147743352719.

rs1477433527 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 9:6013410 (GRCh38)
9:6013411 (GRCh37)
Canonical SPDI:: NC_000009.12:6013410:CTGCTGCTGC:CTGCTGCTGCTGC
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: CTGCTGCTGCTGC=0.000071/1 (ALFA)
CTG=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.6013412TGC[4], NC_000009.11:g.6013412TGC[4], NM_012416.4:c.2189CAG[4], NM_012416.3:c.2189CAG[4], NM_001243202.2:c.1133CAG[4], NM_001243202.1:c.1133CAG[4], NM_001243203.2:c.*867CAG[4], NM_001243203.1:c.*867CAG[4], NR_024094.1:n.1166CAG[4], NR_024095.1:n.1107CAG[4], XM_047423233.1:c.953CAG[4], NP_036548.1:p.Ala732dup, NP_001230131.1:p.Ala380dup, XP_047279189.1:p.Ala320dup

Select item 147708211020.

rs1477082110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:6013154 (GRCh38)
9:6013154 (GRCh37)
Canonical SPDI:: NC_000009.12:6013153:C:T
Gene:: RANBP6 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.6013154C>T, NC_000009.11:g.6013154C>T, NM_012416.4:c.2454G>A, NM_012416.3:c.2454G>A, NM_001243202.2:c.1398G>A, NM_001243202.1:c.1398G>A, NM_001243203.2:c.*1132G>A, NM_001243203.1:c.*1132G>A, NR_024094.1:n.1431G>A, NR_024095.1:n.1372G>A, XM_047423233.1:c.1218G>A

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