Linked Data
dbSNP Id:
rs746455693
ExAC:
1:197060095 C / T
gnomAD v2:
1-197060095-C-T
gnomAD v3:
1-197090965-C-T
gnomAD v4:
1-197090965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090965C>T , CM000663.2:g.197090965C>T | GRCh38 |
| NC_000001.10:g.197060095C>T , CM000663.1:g.197060095C>T | GRCh37 |
| NC_000001.9:g.195326718C>T | NCBI36 |
| NG_015867.1:g.60730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2808G>A | ||
| ENST00000367409.9:c.9521G>A MANE Select | ENSP00000356379.4:p.Gly3174Asp | |
| ENST00000680265.1:c.9743G>A | ENSP00000505384.1:p.Gly3248Asp | |
| ENST00000680710.1:c.9497G>A | ENSP00000506676.1:p.Gly3166Asp | |
| ENST00000294732.11:c.4766G>A | ENSP00000294732.7:p.Gly1589Asp | |
| ENST00000367408.5:c.2516G>A | ENSP00000356378.1:p.Gly839Asp | |
| ENST00000367409.8:c.9521G>A | ENSP00000356379.4:p.Gly3174Asp | |
| ENST00000612785.1:c.3479G>A | ENSP00000479244.1:p.Gly1160Asp | |
| NM_001206846.1:c.4766G>A | NP_001193775.1:p.Gly1589Asp | |
| NM_018136.4:c.9521G>A | NP_060606.3:p.Gly3174Asp | |
| NM_018136.5:c.9521G>A MANE Select | NP_060606.3:p.Gly3174Asp | |
| NM_001206846.2:c.4766G>A | NP_001193775.1:p.Gly1589Asp |