Linked Data
dbSNP Id:
rs758813905
ExAC:
17:7979011 T / C
gnomAD v2:
17-7979011-T-C
gnomAD v4:
17-8075693-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075693T>C , CM000679.2:g.8075693T>C | GRCh38 |
| NC_000017.10:g.7979011T>C , CM000679.1:g.7979011T>C | GRCh37 |
| NC_000017.9:g.7919736T>C | NCBI36 |
| NG_007099.1:g.17011A>G | |
| NG_007099.2:g.17024A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647874.1:c.1556A>G MANE Select | ENSP00000497784.1:p.Tyr519Cys | |
| ENST00000649809.1:c.620A>G | ENSP00000496845.1:p.Tyr207Cys | |
| ENST00000319144.4:c.1556A>G | ENSP00000315167.4:p.Tyr519Cys | |
| ENST00000577351.5:n.479+482A>G | ||
| NM_001139.2:c.1556A>G | NP_001130.1:p.Tyr519Cys | |
| NM_001139.3:c.1556A>G MANE Select | NP_001130.1:p.Tyr519Cys |