Linked Data
dbSNP Id:
rs767913054
ExAC:
15:23889606 T / C
gnomAD v2:
15-23889606-T-C
gnomAD v4:
15-23644459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644459T>C , CM000677.2:g.23644459T>C | GRCh38 |
| NC_000015.9:g.23889606T>C , CM000677.1:g.23889606T>C | GRCh37 |
| NC_000015.8:g.21440699T>C | NCBI36 |
| NG_016776.1:g.8388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3284A>G MANE Select | ENSP00000497810.1:p.Tyr1095Cys | |
| ENST00000532292.2:c.3284A>G | ENSP00000433433.2:p.Tyr1095Cys | |
| NM_019066.4:c.3284A>G | NP_061939.3:p.Tyr1095Cys | |
| NM_019066.5:c.3284A>G MANE Select | NP_061939.3:p.Tyr1095Cys |