Linked Data
dbSNP Id:
rs759117829
ExAC:
9:841923 G / A
gnomAD v2:
9-841923-G-A
gnomAD v4:
9-841923-G-A
COSMIC:
COSM4961953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841923G>A , CM000671.2:g.841923G>A | GRCh38 |
| NC_000009.11:g.841923G>A , CM000671.1:g.841923G>A | GRCh37 |
| NC_000009.10:g.831923G>A | NCBI36 |
| NG_009221.1:g.5234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.85G>A MANE Select | ENSP00000371711.3:p.Gly29Arg | |
| ENST00000382276.7:c.85G>A | ENSP00000371711.3:p.Gly29Arg | |
| ENST00000564322.1:n.234G>A | ||
| NM_021951.2:c.85G>A | NP_068770.2:p.Gly29Arg | |
| XM_006716732.1:c.85G>A | XP_006716795.1:p.Gly29Arg | |
| XM_017014375.1:c.85G>A | XP_016869864.1:p.Gly29Arg | |
| NM_021951.3:c.85G>A MANE Select | NP_068770.2:p.Gly29Arg |