Linked Data
dbSNP Id:
rs748079436
ExAC:
1:24192113 T / C
gnomAD v2:
1-24192113-T-C
gnomAD v3:
1-23865623-T-C
gnomAD v4:
1-23865623-T-C
COSMIC:
COSM6045150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865623T>C , CM000663.2:g.23865623T>C | GRCh38 |
| NC_000001.10:g.24192113T>C , CM000663.1:g.24192113T>C | GRCh37 |
| NC_000001.9:g.24064700T>C | NCBI36 |
| NG_013346.1:g.7747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.392A>G MANE Select | ENSP00000363603.3:p.Tyr131Cys | |
| ENST00000374479.3:c.392A>G | ENSP00000363603.3:p.Tyr131Cys | |
| NM_000147.4:c.392A>G | NP_000138.2:p.Tyr131Cys | |
| XM_005245821.1:c.17A>G | XP_005245878.1:p.Tyr6Cys | |
| XM_011541167.1:c.-242A>G | XP_011539469.1:n.-242A>G | |
| XM_005245821.3:c.17A>G | XP_005245878.1:p.Tyr6Cys | |
| XM_011541167.3:c.-242A>G | XP_011539469.1:n.-242A>G | |
| XM_017000905.2:c.89A>G | XP_016856394.1:p.Tyr30Cys | |
| NM_000147.5:c.392A>G MANE Select | NP_000138.2:p.Tyr131Cys | |
| NR_174379.1:n.570A>G | ||
| NR_174380.1:n.619A>G | ||
| NR_174381.1:n.458A>G | ||
| NR_174382.1:n.855A>G |