SNP Links for Protein (Select 1047610168) - SNP

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Links from Protein

Items: 1 to 20 of 93

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Select item 14887373121.

rs1488737312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123502677 (GRCh38)
3:123221524 (GRCh37)
Canonical SPDI:: NC_000003.12:123502676:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.123502677T>C, NC_000003.11:g.123221524T>C, NM_198402.5:c.386A>G, NM_198402.4:c.386A>G, NM_198402.3:c.386A>G, NM_001329784.2:c.107A>G, NM_001329784.1:c.107A>G, NM_001329783.2:c.455A>G, NM_001329783.1:c.455A>G, NM_001329787.2:c.53A>G, NM_001329787.1:c.53A>G, NM_001329786.2:c.53A>G, NM_001329786.1:c.53A>G, XM_047447663.1:c.386A>G, XM_047447664.1:c.107A>G, XM_047447665.1:c.107A>G, NP_940684.1:p.Gln129Arg, NP_001316713.1:p.Gln36Arg, NP_001316712.1:p.Gln152Arg, NP_001316716.1:p.Gln18Arg, NP_001316715.1:p.Gln18Arg, XP_047303619.1:p.Gln129Arg, XP_047303620.1:p.Gln36Arg, XP_047303621.1:p.Gln36Arg

Select item 14834759632.

rs1483475963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123494930 (GRCh38)
3:123213777 (GRCh37)
Canonical SPDI:: NC_000003.12:123494929:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123494930T>C, NC_000003.11:g.123213777T>C, NM_198402.5:c.723A>G, NM_198402.4:c.723A>G, NM_198402.3:c.723A>G, NM_001329784.2:c.444A>G, NM_001329784.1:c.444A>G, NM_001329783.2:c.792A>G, NM_001329783.1:c.792A>G, NM_001329787.2:c.390A>G, NM_001329787.1:c.390A>G, NM_001329786.2:c.390A>G, NM_001329786.1:c.390A>G, XM_047447663.1:c.*4706A>G, XM_047447664.1:c.444A>G, XM_047447665.1:c.444A>G

Select item 14731772683.

rs1473177268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:123528412 (GRCh38)
3:123247260 (GRCh37)
Canonical SPDI:: NC_000003.12:123528412:T:TT
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123528413dup, NC_000003.11:g.123247260dup, NM_198402.5:c.354dup, NM_198402.4:c.354dup, NM_198402.3:c.354dup, NM_001329784.2:c.75dup, NM_001329784.1:c.75dup, NM_001329783.2:c.423dup, NM_001329783.1:c.423dup, NM_001329787.2:c.21dup, NM_001329787.1:c.21dup, NM_001329786.2:c.21dup, NM_001329786.1:c.21dup, XM_047447663.1:c.354dup, XM_047447664.1:c.75dup, XM_047447665.1:c.75dup, NP_940684.1:p.Trp119fs, NP_001316713.1:p.Trp26fs, NP_001316712.1:p.Trp142fs, NP_001316716.1:p.Trp8fs, NP_001316715.1:p.Trp8fs, XP_047303619.1:p.Trp119fs, XP_047303620.1:p.Trp26fs, XP_047303621.1:p.Trp26fs

Select item 14715983924.

rs1471598392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:123500662 (GRCh38)
3:123219509 (GRCh37)
Canonical SPDI:: NC_000003.12:123500661:C:T
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123500662C>T, NC_000003.11:g.123219509C>T, NM_198402.5:c.535G>A, NM_198402.4:c.535G>A, NM_198402.3:c.535G>A, NM_001329784.2:c.256G>A, NM_001329784.1:c.256G>A, NM_001329783.2:c.604G>A, NM_001329783.1:c.604G>A, NM_001329787.2:c.202G>A, NM_001329787.1:c.202G>A, NM_001329786.2:c.202G>A, NM_001329786.1:c.202G>A, XM_047447663.1:c.535G>A, XM_047447664.1:c.256G>A, XM_047447665.1:c.256G>A, NP_940684.1:p.Gly179Arg, NP_001316713.1:p.Gly86Arg, NP_001316712.1:p.Gly202Arg, NP_001316716.1:p.Gly68Arg, NP_001316715.1:p.Gly68Arg, XP_047303619.1:p.Gly179Arg, XP_047303620.1:p.Gly86Arg, XP_047303621.1:p.Gly86Arg

Select item 14676987725.

rs1467698772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:123528430 (GRCh38)
3:123247277 (GRCh37)
Canonical SPDI:: NC_000003.12:123528429:A:G
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000066/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123528430A>G, NC_000003.11:g.123247277A>G, NM_198402.5:c.337T>C, NM_198402.4:c.337T>C, NM_198402.3:c.337T>C, NM_001329784.2:c.58T>C, NM_001329784.1:c.58T>C, NM_001329783.2:c.406T>C, NM_001329783.1:c.406T>C, NM_001329787.2:c.4T>C, NM_001329787.1:c.4T>C, NM_001329786.2:c.4T>C, NM_001329786.1:c.4T>C, XM_047447663.1:c.337T>C, XM_047447664.1:c.58T>C, XM_047447665.1:c.58T>C, NP_940684.1:p.Ser113Pro, NP_001316713.1:p.Ser20Pro, NP_001316712.1:p.Ser136Pro, NP_001316716.1:p.Ser2Pro, NP_001316715.1:p.Ser2Pro, XP_047303619.1:p.Ser113Pro, XP_047303620.1:p.Ser20Pro, XP_047303621.1:p.Ser20Pro

Select item 14584484076.

rs1458448407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123500651 (GRCh38)
3:123219498 (GRCh37)
Canonical SPDI:: NC_000003.12:123500650:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123500651T>C, NC_000003.11:g.123219498T>C, NM_198402.5:c.546A>G, NM_198402.4:c.546A>G, NM_198402.3:c.546A>G, NM_001329784.2:c.267A>G, NM_001329784.1:c.267A>G, NM_001329783.2:c.615A>G, NM_001329783.1:c.615A>G, NM_001329787.2:c.213A>G, NM_001329787.1:c.213A>G, NM_001329786.2:c.213A>G, NM_001329786.1:c.213A>G, XM_047447663.1:c.546A>G, XM_047447664.1:c.267A>G, XM_047447665.1:c.267A>G

Select item 14472781617.

rs1447278161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123500585 (GRCh38)
3:123219432 (GRCh37)
Canonical SPDI:: NC_000003.12:123500584:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123500585T>C, NC_000003.11:g.123219432T>C, NM_198402.5:c.612A>G, NM_198402.4:c.612A>G, NM_198402.3:c.612A>G, NM_001329784.2:c.333A>G, NM_001329784.1:c.333A>G, NM_001329783.2:c.681A>G, NM_001329783.1:c.681A>G, NM_001329787.2:c.279A>G, NM_001329787.1:c.279A>G, NM_001329786.2:c.279A>G, NM_001329786.1:c.279A>G, XM_047447663.1:c.612A>G, XM_047447664.1:c.333A>G, XM_047447665.1:c.333A>G

Select item 14419022698.

rs1441902269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123528428 (GRCh38)
3:123247275 (GRCh37)
Canonical SPDI:: NC_000003.12:123528427:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.123528428T>C, NC_000003.11:g.123247275T>C, NM_198402.5:c.339A>G, NM_198402.4:c.339A>G, NM_198402.3:c.339A>G, NM_001329784.2:c.60A>G, NM_001329784.1:c.60A>G, NM_001329783.2:c.408A>G, NM_001329783.1:c.408A>G, NM_001329787.2:c.6A>G, NM_001329787.1:c.6A>G, NM_001329786.2:c.6A>G, NM_001329786.1:c.6A>G, XM_047447663.1:c.339A>G, XM_047447664.1:c.60A>G, XM_047447665.1:c.60A>G

Select item 14287667529.

rs1428766752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:123494970 (GRCh38)
3:123213817 (GRCh37)
Canonical SPDI:: NC_000003.12:123494969:A:C
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.123494970A>C, NC_000003.11:g.123213817A>C, NM_198402.5:c.683T>G, NM_198402.4:c.683T>G, NM_198402.3:c.683T>G, NM_001329784.2:c.404T>G, NM_001329784.1:c.404T>G, NM_001329783.2:c.752T>G, NM_001329783.1:c.752T>G, NM_001329787.2:c.350T>G, NM_001329787.1:c.350T>G, NM_001329786.2:c.350T>G, NM_001329786.1:c.350T>G, XM_047447663.1:c.*4666T>G, XM_047447664.1:c.404T>G, XM_047447665.1:c.404T>G, NP_940684.1:p.Ile228Ser, NP_001316713.1:p.Ile135Ser, NP_001316712.1:p.Ile251Ser, NP_001316716.1:p.Ile117Ser, NP_001316715.1:p.Ile117Ser, XP_047303620.1:p.Ile135Ser, XP_047303621.1:p.Ile135Ser

Select item 140342631010.

rs1403426310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:123494893 (GRCh38)
3:123213740 (GRCh37)
Canonical SPDI:: NC_000003.12:123494892:C:G
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.123494893C>G, NC_000003.11:g.123213740C>G, NM_198402.5:c.760G>C, NM_198402.4:c.760G>C, NM_198402.3:c.760G>C, NM_001329784.2:c.481G>C, NM_001329784.1:c.481G>C, NM_001329783.2:c.829G>C, NM_001329783.1:c.829G>C, NM_001329787.2:c.427G>C, NM_001329787.1:c.427G>C, NM_001329786.2:c.427G>C, NM_001329786.1:c.427G>C, XM_047447663.1:c.*4743G>C, XM_047447664.1:c.481G>C, XM_047447665.1:c.481G>C, NP_940684.1:p.Glu254Gln, NP_001316713.1:p.Glu161Gln, NP_001316712.1:p.Glu277Gln, NP_001316716.1:p.Glu143Gln, NP_001316715.1:p.Glu143Gln, XP_047303620.1:p.Glu161Gln, XP_047303621.1:p.Glu161Gln

Select item 139623140611.

rs1396231406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123494897 (GRCh38)
3:123213744 (GRCh37)
Canonical SPDI:: NC_000003.12:123494896:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123494897T>C, NC_000003.11:g.123213744T>C, NM_198402.5:c.756A>G, NM_198402.4:c.756A>G, NM_198402.3:c.756A>G, NM_001329784.2:c.477A>G, NM_001329784.1:c.477A>G, NM_001329783.2:c.825A>G, NM_001329783.1:c.825A>G, NM_001329787.2:c.423A>G, NM_001329787.1:c.423A>G, NM_001329786.2:c.423A>G, NM_001329786.1:c.423A>G, XM_047447663.1:c.*4739A>G, XM_047447664.1:c.477A>G, XM_047447665.1:c.477A>G

Select item 139206876112.

rs1392068761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:123500535 (GRCh38)
3:123219382 (GRCh37)
Canonical SPDI:: NC_000003.12:123500534:A:G
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.123500535A>G, NC_000003.11:g.123219382A>G, NM_198402.5:c.662T>C, NM_198402.4:c.662T>C, NM_198402.3:c.662T>C, NM_001329784.2:c.383T>C, NM_001329784.1:c.383T>C, NM_001329783.2:c.731T>C, NM_001329783.1:c.731T>C, NM_001329787.2:c.329T>C, NM_001329787.1:c.329T>C, NM_001329786.2:c.329T>C, NM_001329786.1:c.329T>C, XM_047447663.1:c.662T>C, XM_047447664.1:c.383T>C, XM_047447665.1:c.383T>C, NP_940684.1:p.Ile221Thr, NP_001316713.1:p.Ile128Thr, NP_001316712.1:p.Ile244Thr, NP_001316716.1:p.Ile110Thr, NP_001316715.1:p.Ile110Thr, XP_047303619.1:p.Ile221Thr, XP_047303620.1:p.Ile128Thr, XP_047303621.1:p.Ile128Thr

Select item 137878769813.

rs1378787698 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATT>- [Show Flanks]
Chromosome:: 3:123500573 (GRCh38)
3:123219420 (GRCh37)
Canonical SPDI:: NC_000003.12:123500569:ATTGTATT:ATT
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123500573_123500577del, NC_000003.11:g.123219420_123219424del, NM_198402.5:c.623_627del, NM_198402.4:c.623_627del, NM_198402.3:c.623_627del, NM_001329784.2:c.344_348del, NM_001329784.1:c.344_348del, NM_001329783.2:c.692_696del, NM_001329783.1:c.692_696del, NM_001329787.2:c.290_294del, NM_001329787.1:c.290_294del, NM_001329786.2:c.290_294del, NM_001329786.1:c.290_294del, XM_047447663.1:c.623_627del, XM_047447664.1:c.344_348del, XM_047447665.1:c.344_348del, NP_940684.1:p.Tyr208fs, NP_001316713.1:p.Tyr115fs, NP_001316712.1:p.Tyr231fs, NP_001316716.1:p.Tyr97fs, NP_001316715.1:p.Tyr97fs, XP_047303619.1:p.Tyr208fs, XP_047303620.1:p.Tyr115fs, XP_047303621.1:p.Tyr115fs

Select item 137725583514.

rs1377255835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:123500591 (GRCh38)
3:123219438 (GRCh37)
Canonical SPDI:: NC_000003.12:123500590:G:A
Gene:: HACD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123500591G>A, NC_000003.11:g.123219438G>A, NM_198402.5:c.606C>T, NM_198402.4:c.606C>T, NM_198402.3:c.606C>T, NM_001329784.2:c.327C>T, NM_001329784.1:c.327C>T, NM_001329783.2:c.675C>T, NM_001329783.1:c.675C>T, NM_001329787.2:c.273C>T, NM_001329787.1:c.273C>T, NM_001329786.2:c.273C>T, NM_001329786.1:c.273C>T, XM_047447663.1:c.606C>T, XM_047447664.1:c.327C>T, XM_047447665.1:c.327C>T

Select item 137024164915.

rs1370241649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:123528409 (GRCh38)
3:123247256 (GRCh37)
Canonical SPDI:: NC_000003.12:123528408:C:G
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123528409C>G, NC_000003.11:g.123247256C>G, NM_198402.5:c.358G>C, NM_198402.4:c.358G>C, NM_198402.3:c.358G>C, NM_001329784.2:c.79G>C, NM_001329784.1:c.79G>C, NM_001329783.2:c.427G>C, NM_001329783.1:c.427G>C, NM_001329787.2:c.25G>C, NM_001329787.1:c.25G>C, NM_001329786.2:c.25G>C, NM_001329786.1:c.25G>C, XM_047447663.1:c.358G>C, XM_047447664.1:c.79G>C, XM_047447665.1:c.79G>C, NP_940684.1:p.Ala120Pro, NP_001316713.1:p.Ala27Pro, NP_001316712.1:p.Ala143Pro, NP_001316716.1:p.Ala9Pro, NP_001316715.1:p.Ala9Pro, XP_047303619.1:p.Ala120Pro, XP_047303620.1:p.Ala27Pro, XP_047303621.1:p.Ala27Pro

Select item 136931531316.

rs1369315313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:123502627 (GRCh38)
3:123221474 (GRCh37)
Canonical SPDI:: NC_000003.12:123502626:T:C
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.123502627T>C, NC_000003.11:g.123221474T>C, NM_198402.5:c.436A>G, NM_198402.4:c.436A>G, NM_198402.3:c.436A>G, NM_001329784.2:c.157A>G, NM_001329784.1:c.157A>G, NM_001329783.2:c.505A>G, NM_001329783.1:c.505A>G, NM_001329787.2:c.103A>G, NM_001329787.1:c.103A>G, NM_001329786.2:c.103A>G, NM_001329786.1:c.103A>G, XM_047447663.1:c.436A>G, XM_047447664.1:c.157A>G, XM_047447665.1:c.157A>G, NP_940684.1:p.Ile146Val, NP_001316713.1:p.Ile53Val, NP_001316712.1:p.Ile169Val, NP_001316716.1:p.Ile35Val, NP_001316715.1:p.Ile35Val, XP_047303619.1:p.Ile146Val, XP_047303620.1:p.Ile53Val, XP_047303621.1:p.Ile53Val

Select item 136120452317.

rs1361204523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:123502655 (GRCh38)
3:123221502 (GRCh37)
Canonical SPDI:: NC_000003.12:123502654:C:G
Gene:: HACD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.123502655C>G, NC_000003.11:g.123221502C>G, NM_198402.5:c.408G>C, NM_198402.4:c.408G>C, NM_198402.3:c.408G>C, NM_001329784.2:c.129G>C, NM_001329784.1:c.129G>C, NM_001329783.2:c.477G>C, NM_001329783.1:c.477G>C, NM_001329787.2:c.75G>C, NM_001329787.1:c.75G>C, NM_001329786.2:c.75G>C, NM_001329786.1:c.75G>C, XM_047447663.1:c.408G>C, XM_047447664.1:c.129G>C, XM_047447665.1:c.129G>C

Select item 135798093618.

rs1357980936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:123494954 (GRCh38)
3:123213801 (GRCh37)
Canonical SPDI:: NC_000003.12:123494953:G:A
Gene:: HACD2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.123494954G>A, NC_000003.11:g.123213801G>A, NM_198402.5:c.699C>T, NM_198402.4:c.699C>T, NM_198402.3:c.699C>T, NM_001329784.2:c.420C>T, NM_001329784.1:c.420C>T, NM_001329783.2:c.768C>T, NM_001329783.1:c.768C>T, NM_001329787.2:c.366C>T, NM_001329787.1:c.366C>T, NM_001329786.2:c.366C>T, NM_001329786.1:c.366C>T, XM_047447663.1:c.*4682C>T, XM_047447664.1:c.420C>T, XM_047447665.1:c.420C>T

Select item 135373695119.

rs1353736951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:123500518 (GRCh38)
3:123219365 (GRCh37)
Canonical SPDI:: NC_000003.12:123500517:G:T
Gene:: HACD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.123500518G>T, NC_000003.11:g.123219365G>T, NM_198402.5:c.679C>A, NM_198402.4:c.679C>A, NM_198402.3:c.679C>A, NM_001329784.2:c.400C>A, NM_001329784.1:c.400C>A, NM_001329783.2:c.748C>A, NM_001329783.1:c.748C>A, NM_001329787.2:c.346C>A, NM_001329787.1:c.346C>A, NM_001329786.2:c.346C>A, NM_001329786.1:c.346C>A, XM_047447663.1:c.679C>A, XM_047447664.1:c.400C>A, XM_047447665.1:c.400C>A, NP_940684.1:p.Pro227Thr, NP_001316713.1:p.Pro134Thr, NP_001316712.1:p.Pro250Thr, NP_001316716.1:p.Pro116Thr, NP_001316715.1:p.Pro116Thr, XP_047303619.1:p.Pro227Thr, XP_047303620.1:p.Pro134Thr, XP_047303621.1:p.Pro134Thr

Select item 134270289320.

rs1342702893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:123494910 (GRCh38)
3:123213757 (GRCh37)
Canonical SPDI:: NC_000003.12:123494909:T:G
Gene:: HACD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.123494910T>G, NC_000003.11:g.123213757T>G, NM_198402.5:c.743A>C, NM_198402.4:c.743A>C, NM_198402.3:c.743A>C, NM_001329784.2:c.464A>C, NM_001329784.1:c.464A>C, NM_001329783.2:c.812A>C, NM_001329783.1:c.812A>C, NM_001329787.2:c.410A>C, NM_001329787.1:c.410A>C, NM_001329786.2:c.410A>C, NM_001329786.1:c.410A>C, XM_047447663.1:c.*4726A>C, XM_047447664.1:c.464A>C, XM_047447665.1:c.464A>C, NP_940684.1:p.Glu248Ala, NP_001316713.1:p.Glu155Ala, NP_001316712.1:p.Glu271Ala, NP_001316716.1:p.Glu137Ala, NP_001316715.1:p.Glu137Ala, XP_047303620.1:p.Glu155Ala, XP_047303621.1:p.Glu155Ala

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