Linked Data
dbSNP Id:
rs776997023
ExAC:
1:9017303 G / A
gnomAD v2:
1-9017303-G-A
gnomAD v3:
1-8957244-G-A
gnomAD v4:
1-8957244-G-A
COSMIC:
COSM2259177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957244G>A , CM000663.2:g.8957244G>A | GRCh38 |
| NC_000001.10:g.9017303G>A , CM000663.1:g.9017303G>A | GRCh37 |
| NC_000001.9:g.8939890G>A | NCBI36 |
| NG_033975.1:g.16411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.367G>A MANE Select | ENSP00000366662.2:p.Gly123Ser | |
| ENST00000377436.6:c.367G>A | ENSP00000366654.3:p.Gly123Ser | |
| ENST00000377442.3:c.187G>A | ENSP00000366661.2:p.Gly63Ser | |
| ENST00000377443.6:c.367G>A | ENSP00000366662.2:p.Gly123Ser | |
| ENST00000476083.1:n.99-1666G>A | ||
| ENST00000549778.5:c.271G>A | ENSP00000447108.1:p.Gly91Ser | |
| NM_001215.3:c.367G>A | NP_001206.2:p.Gly123Ser | |
| NM_001270500.1:c.367G>A | NP_001257429.1:p.Gly123Ser | |
| NM_001270501.1:c.187G>A | NP_001257430.1:p.Gly63Ser | |
| NM_001270502.1:c.25-1666G>A | NP_001257431.1:n.25-1666G>A | |
| XM_011542083.1:c.379G>A | XP_011540385.1:p.Gly127Ser | |
| XM_011542084.1:c.379G>A | XP_011540386.1:p.Gly127Ser | |
| XM_011542083.3:c.379G>A | XP_011540385.1:p.Gly127Ser | |
| XM_011542084.3:c.379G>A | XP_011540386.1:p.Gly127Ser | |
| NM_001215.4:c.367G>A MANE Select | NP_001206.2:p.Gly123Ser | |
| NM_001270500.2:c.367G>A | NP_001257429.1:p.Gly123Ser | |
| NM_001270501.2:c.187G>A | NP_001257430.1:p.Gly63Ser | |
| NM_001270502.2:c.25-1666G>A | NP_001257431.1:n.25-1666G>A |