Linked Data
dbSNP Id:
rs780966400
ExAC:
1:17660498 G / A
gnomAD v2:
1-17660498-G-A
gnomAD v3:
1-17334003-G-A
gnomAD v4:
1-17334003-G-A
COSMIC:
COSM2093915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17334003G>A , CM000663.2:g.17334003G>A | GRCh38 |
| NC_000001.10:g.17660498G>A , CM000663.1:g.17660498G>A | GRCh37 |
| NC_000001.9:g.17533085G>A | NCBI36 |
| NG_023261.2:g.30814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.334G>A MANE Select | ENSP00000364597.4:p.Gly112Arg | |
| ENST00000375453.5:c.334G>A | ENSP00000364602.1:p.Gly112Arg | |
| NM_012387.2:c.334G>A | NP_036519.2:p.Gly112Arg | |
| XM_011541150.1:c.334G>A | XP_011539452.1:p.Gly112Arg | |
| XM_011541151.1:c.334G>A | XP_011539453.1:p.Gly112Arg | |
| XM_011541152.1:c.-86G>A | XP_011539454.1:n.-86G>A | |
| XM_011541153.1:c.334G>A | XP_011539455.1:p.Gly112Arg | |
| XM_011541154.1:c.334G>A | XP_011539456.1:p.Gly112Arg | |
| XM_011541155.1:c.334G>A | XP_011539457.1:p.Gly112Arg | |
| XM_011541156.1:c.334G>A | XP_011539458.1:p.Gly112Arg | |
| XM_011541157.1:c.-379G>A | XP_011539459.1:n.-379G>A | |
| XM_011541154.2:c.334G>A | XP_011539456.1:p.Gly112Arg | |
| NM_012387.3:c.334G>A MANE Select | NP_036519.2:p.Gly112Arg |