Linked Data
ClinVar Variation Id:
2996818
ClinVar RCV Id:
RCV003858953
dbSNP Id:
rs775498550
ExAC:
2:48010518 C / A
gnomAD v2:
2-48010518-C-A
gnomAD v3:
2-47783379-C-A
gnomAD v4:
2-47783379-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783379C>A , CM000664.2:g.47783379C>A | GRCh38 |
| NC_000002.11:g.48010518C>A , CM000664.1:g.48010518C>A | GRCh37 |
| NC_000002.10:g.47864022C>A | NCBI36 |
| NG_007111.1:g.5233C>A , LRG_219:g.5233C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.146C>A | ENSP00000514752.2:p.Ala49Asp | |
| ENST00000699999.1:n.230C>A | ||
| ENST00000700000.1:c.146C>A | ENSP00000514749.1:p.Ala49Asp | |
| ENST00000700001.1:n.218C>A | ||
| ENST00000700002.1:c.146C>A | ENSP00000514750.1:p.Ala49Asp | |
| ENST00000700003.1:c.146C>A | ENSP00000514751.1:p.Ala49Asp | |
| ENST00000234420.11:c.146C>A MANE Select | ENSP00000234420.5:p.Ala49Asp | |
| ENST00000540021.6:c.146C>A | ENSP00000446475.1:p.Ala49Asp | |
| ENST00000652107.1:c.-37-7548C>A | ENSP00000498629.1:n.-37-7548C>A | |
| ENST00000673637.1:c.-38+148C>A | ENSP00000501310.1:n.-38+148C>A | |
| ENST00000673922.1:n.235C>A | ||
| ENST00000234420.9:c.146C>A | ENSP00000234420.4:p.Ala49Asp | |
| ENST00000445503.5:c.146C>A | ENSP00000405294.1:p.Ala49Asp | |
| ENST00000456246.1:c.146C>A | ENSP00000410570.1:p.Ala49Asp | |
| ENST00000493177.1:n.210C>A | ||
| ENST00000540021.5:c.146C>A | ENSP00000446475.1:p.Ala49Asp | |
| ENST00000606499.1:c.-37-7548C>A | ENSP00000475605.1:n.-37-7548C>A | |
| ENST00000614496.4:c.-591C>A | ENSP00000477844.1:n.-591C>A | |
| ENST00000616033.4:c.144C>A | ENSP00000480261.1:p.Gly48= | |
| ENST00000622629.4:c.-2951C>A | ENSP00000482078.1:n.-2951C>A | |
| NM_000179.2:c.146C>A , LRG_219t1:c.146C>A | NP_000170.1:p.Ala49Asp | |
| NM_001281492.1:c.146C>A | NP_001268421.1:p.Ala49Asp | |
| NM_001281493.1:c.-591C>A | NP_001268422.1:n.-591C>A | |
| XM_011532800.1:c.-38+148C>A | XP_011531102.1:n.-38+148C>A | |
| XM_024452819.1:c.146C>A | XP_024308587.1:p.Ala49Asp | |
| XM_024452822.1:c.-591C>A | XP_024308590.1:n.-591C>A | |
| NM_000179.3:c.146C>A MANE Select | NP_000170.1:p.Ala49Asp | |
| NM_001281492.2:c.146C>A | NP_001268421.1:p.Ala49Asp | |
| NM_001281493.2:c.-591C>A | NP_001268422.1:n.-591C>A |