Linked Data
ClinVar Variation Id:
1262
ClinVar RCV Id:
RCV000001324
RCV000343151
RCV000274058
RCV001293274
RCV001813931
RCV003125824
RCV003415614
RCV004018532
dbSNP Id:
rs75184679
ExAC:
13:51519581 G / A
gnomAD v2:
13-51519581-G-A
gnomAD v3:
13-50945445-G-A
gnomAD v4:
13-50945445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50945445G>A , CM000675.2:g.50945445G>A | GRCh38 |
| NC_000013.10:g.51519581G>A , CM000675.1:g.51519581G>A | GRCh37 |
| NC_000013.9:g.50417582G>A | NCBI36 |
| NG_009055.1:g.40690G>A , LRG_279:g.40690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.529G>A MANE Select | ENSP00000337623.2:p.Ala177Thr | |
| ENST00000422660.6:c.529G>A | ENSP00000389877.1:p.Ala177Thr | |
| ENST00000459681.3:n.212G>A | ||
| ENST00000495244.7:n.540G>A | ||
| ENST00000611510.5:c.439G>A | ENSP00000481236.3:p.Ala147Thr | |
| ENST00000616907.2:c.529G>A | ENSP00000482701.2:p.Ala177Thr | |
| ENST00000642207.1:c.268G>A | ||
| ENST00000642454.1:c.439G>A | ENSP00000494221.1:p.Ala147Thr | |
| ENST00000642721.1:c.529G>A | ENSP00000495650.1:p.Ala177Thr | |
| ENST00000642995.1:c.412G>A | ENSP00000493499.1:p.Ala138Thr | |
| ENST00000643159.1:c.439G>A | ENSP00000495587.1:p.Ala147Thr | |
| ENST00000643215.1:c.399G>A | ||
| ENST00000643405.1:c.177G>A | ||
| ENST00000643529.1:c.42G>A | ||
| ENST00000643682.1:c.529G>A | ENSP00000493655.1:p.Ala177Thr | |
| ENST00000643774.1:c.493G>A | ENSP00000495482.1:p.Ala165Thr | |
| ENST00000644034.1:c.65-2542G>A | ENSP00000495456.1:n.65-2542G>A | |
| ENST00000644183.1:c.419G>A | ENSP00000495657.1:n.419G>A | |
| ENST00000644297.1:c.*387G>A | ENSP00000495519.1:n.*387G>A | |
| ENST00000644420.1:n.555G>A | ||
| ENST00000644425.1:c.480G>A | ||
| ENST00000644518.1:c.*396G>A | ENSP00000495793.1:n.*396G>A | |
| ENST00000645188.1:c.520G>A | ENSP00000496224.1:p.Ala174Thr | |
| ENST00000645333.1:n.461G>A | ||
| ENST00000645370.1:c.364G>A | ENSP00000494019.1:p.Ala122Thr | |
| ENST00000645618.1:c.439G>A | ENSP00000495429.1:p.Ala147Thr | |
| ENST00000645712.1:n.553G>A | ||
| ENST00000645955.1:c.529G>A | ENSP00000495755.1:p.Ala177Thr | |
| ENST00000645990.1:c.529G>A | ENSP00000496571.1:p.Ala177Thr | |
| ENST00000646092.1:c.493G>A | ENSP00000496293.1:p.Ala165Thr | |
| ENST00000646279.1:n.826G>A | ||
| ENST00000646339.1:c.191G>A | ENSP00000495773.1:n.191G>A | |
| ENST00000646709.1:c.439G>A | ENSP00000495278.1:p.Ala147Thr | |
| ENST00000646731.1:c.520G>A | ENSP00000493828.1:p.Ala174Thr | |
| ENST00000646960.1:c.529G>A | ENSP00000496481.1:p.Ala177Thr | |
| ENST00000646964.1:n.1168G>A | ||
| ENST00000647387.1:c.439G>A | ENSP00000495487.1:p.Ala147Thr | |
| ENST00000336617.7:c.529G>A | ENSP00000337623.2:p.Ala177Thr | |
| ENST00000422660.5:c.529G>A | ENSP00000389877.1:p.Ala177Thr | |
| ENST00000495244.6:n.540G>A | ||
| ENST00000611510.4:c.529G>A | ENSP00000481236.2:p.Ala177Thr | |
| ENST00000613449.4:n.2591G>A | ||
| ENST00000621641.1:n.117G>A | ||
| NM_001142279.2:c.529G>A , LRG_279t1:c.529G>A | NP_001135751.1:p.Ala177Thr | |
| NM_024570.3:c.529G>A , LRG_279t2:c.529G>A | NP_078846.2:p.Ala177Thr | |
| XM_005266524.2:c.529G>A | XP_005266581.1:p.Ala177Thr | |
| XM_005266525.2:c.529G>A | XP_005266582.1:p.Ala177Thr | |
| XM_006719867.2:c.511G>A | XP_006719930.1:p.Ala171Thr | |
| XM_011535229.1:c.529G>A | XP_011533531.1:p.Ala177Thr | |
| XM_011535230.1:c.529G>A | XP_011533532.1:p.Ala177Thr | |
| XM_011535231.1:c.529G>A | XP_011533533.1:p.Ala177Thr | |
| XM_011535232.1:c.367G>A | XP_011533534.1:p.Ala123Thr | |
| XM_011535233.1:c.121G>A | XP_011533535.1:p.Ala41Thr | |
| XM_011535234.1:c.*14G>A | XP_011533536.1:n.*14G>A | |
| XM_006719867.4:c.511G>A | XP_006719930.1:p.Ala171Thr | |
| XM_011535230.2:c.529G>A | XP_011533532.1:p.Ala177Thr | |
| XM_011535231.2:c.529G>A | XP_011533533.1:p.Ala177Thr | |
| XM_011535233.2:c.121G>A | XP_011533535.1:p.Ala41Thr | |
| XM_017020747.1:c.529G>A | XP_016876236.1:p.Ala177Thr | |
| NM_024570.4:c.529G>A MANE Select | NP_078846.2:p.Ala177Thr |