Linked Data
ClinVar Variation Id:
2500608
ClinVar RCV Id:
RCV003225520
dbSNP Id:
rs747960081
gnomAD v2:
1-197062282-G-T
gnomAD v3:
1-197093152-G-T
gnomAD v4:
1-197093152-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093152G>T , CM000663.2:g.197093152G>T | GRCh38 |
| NC_000001.10:g.197062282G>T , CM000663.1:g.197062282G>T | GRCh37 |
| NC_000001.9:g.195328905G>T | NCBI36 |
| NG_015867.1:g.58543C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2481C>A | ||
| ENST00000367409.9:c.9194C>A MANE Select | ENSP00000356379.4:p.Ala3065Asp | |
| ENST00000680265.1:c.9416C>A | ENSP00000505384.1:p.Ala3139Asp | |
| ENST00000680710.1:c.9194C>A | ENSP00000506676.1:p.Ala3065Asp | |
| ENST00000294732.11:c.4439C>A | ENSP00000294732.7:p.Ala1480Asp | |
| ENST00000367408.5:c.2189C>A | ENSP00000356378.1:p.Ala730Asp | |
| ENST00000367409.8:c.9194C>A | ENSP00000356379.4:p.Ala3065Asp | |
| ENST00000612785.1:c.3152C>A | ENSP00000479244.1:p.Ala1051Asp | |
| NM_001206846.1:c.4439C>A | NP_001193775.1:p.Ala1480Asp | |
| NM_018136.4:c.9194C>A | NP_060606.3:p.Ala3065Asp | |
| NM_018136.5:c.9194C>A MANE Select | NP_060606.3:p.Ala3065Asp | |
| NM_001206846.2:c.4439C>A | NP_001193775.1:p.Ala1480Asp |