Linked Data
dbSNP Id:
rs142027137
ExAC:
1:15772132 G / A
gnomAD v2:
1-15772132-G-A
COSMIC:
COSM3475816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445637G>A , CM000663.2:g.15445637G>A | GRCh38 |
| NC_000001.10:g.15772132G>A , CM000663.1:g.15772132G>A | GRCh37 |
| NC_000001.9:g.15644719G>A | NCBI36 |
| NG_009253.1:g.12195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.680G>A MANE Select | ENSP00000365116.4:p.Gly227Asp | |
| ENST00000375943.6:c.*134G>A | ENSP00000365110.2:n.*134G>A | |
| ENST00000375949.4:c.680G>A | ENSP00000365116.4:p.Gly227Asp | |
| ENST00000483406.1:n.444G>A | ||
| NM_007272.2:c.680G>A | NP_009203.2:p.Gly227Asp | |
| XM_011540550.1:c.534G>A | XP_011538852.1:p.Arg178= | |
| NM_007272.3:c.680G>A MANE Select | NP_009203.2:p.Gly227Asp |