Linked Data
ClinVar Variation Id:
654747
ClinVar RCV Id:
RCV000810762
dbSNP Id:
rs1594810556
gnomAD v4:
14-45185302-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45185302C>A , CM000676.2:g.45185302C>A | GRCh38 |
| NC_000014.8:g.45654505C>A , CM000676.1:g.45654505C>A | GRCh37 |
| NC_000014.7:g.44724255C>A | NCBI36 |
| NG_007417.1:g.54370C>A , LRG_502:g.54370C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.2813C>A | ENSP00000450632.2:p.Ser938Ter | |
| ENST00000555484.2:c.379C>A | ||
| ENST00000556250.6:c.4394C>A | ENSP00000452033.2:p.Ser1465Ter | |
| ENST00000557110.2:c.379C>A | ||
| ENST00000696642.1:c.*3412C>A | ENSP00000512775.1:n.*3412C>A | |
| ENST00000696644.1:n.337C>A | ||
| ENST00000696645.1:n.491C>A | ||
| ENST00000696647.1:c.4601C>A | ENSP00000512778.1:p.Ser1534Ter | |
| ENST00000696648.1:c.*2626C>A | ENSP00000512779.1:n.*2626C>A | |
| ENST00000696649.1:c.4445C>A | ENSP00000512780.1:p.Ser1482Ter | |
| ENST00000696650.1:n.4549C>A | ||
| ENST00000696659.1:c.2599C>A | ||
| ENST00000696663.1:c.3532C>A | ||
| ENST00000696664.1:c.3433C>A | ||
| ENST00000696665.1:c.379C>A | ||
| ENST00000696675.1:c.*357C>A | ENSP00000512799.1:n.*357C>A | |
| ENST00000696683.1:c.3418C>A | ||
| ENST00000696684.1:c.3418C>A | ||
| ENST00000696685.1:c.3418C>A | ||
| ENST00000696686.1:n.1338C>A | ||
| ENST00000267430.10:c.4601C>A MANE Select | ENSP00000267430.5:p.Ser1534Ter | |
| ENST00000267430.9:c.4601C>A | ENSP00000267430.5:p.Ser1534Ter | |
| ENST00000542564.6:c.4523C>A | ENSP00000442493.2:p.Ser1508Ter | |
| ENST00000554809.5:c.1398C>A | ||
| ENST00000555013.1:n.434C>A | ||
| ENST00000556250.5:c.3149C>A | ENSP00000452033.1:p.Ser1050Ter | |
| NM_001308133.1:c.4523C>A | NP_001295062.1:p.Ser1508Ter | |
| NM_020937.2:c.4601C>A , LRG_502t1:c.4601C>A | NP_065988.1:p.Ser1534Ter | |
| NM_020937.3:c.4601C>A | NP_065988.1:p.Ser1534Ter | |
| XM_011537034.1:c.4616C>A | XP_011535336.1:p.Ser1539Ter | |
| XM_011537035.1:c.4538C>A | XP_011535337.1:p.Ser1513Ter | |
| XM_011537036.1:c.4616C>A | XP_011535338.1:p.Ser1539Ter | |
| XM_011537037.1:c.2630C>A | XP_011535339.1:p.Ser877Ter | |
| XM_011537034.2:c.4616C>A | XP_011535336.1:p.Ser1539Ter | |
| XM_011537035.3:c.4538C>A | XP_011535337.1:p.Ser1513Ter | |
| XM_011537037.3:c.2630C>A | XP_011535339.1:p.Ser877Ter | |
| XM_017021523.1:c.4616C>A | XP_016877012.1:p.Ser1539Ter | |
| XM_017021524.2:c.3653C>A | XP_016877013.1:p.Ser1218Ter | |
| XM_017021525.2:c.3431C>A | XP_016877014.1:p.Ser1144Ter | |
| XM_017021526.2:c.3431C>A | XP_016877015.1:p.Ser1144Ter | |
| XM_017021527.1:c.3416C>A | XP_016877016.1:p.Ser1139Ter | |
| XR_001750470.1:n.4708C>A | ||
| XR_001750471.2:n.4693C>A | ||
| XR_001750472.1:n.4745C>A | ||
| NM_020937.4:c.4601C>A MANE Select | NP_065988.1:p.Ser1534Ter | |
| NM_001308133.2:c.4523C>A | NP_001295062.1:p.Ser1508Ter |