Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740518A>T , CM000666.2:g.67740518A>T | GRCh38 |
| NC_000004.11:g.68606236A>T , CM000666.1:g.68606236A>T | GRCh37 |
| NC_000004.10:g.68288831A>T | NCBI36 |
| NG_009293.1:g.20569T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.949T>A MANE Select | ENSP00000226413.5:p.Cys317Ser | |
| ENST00000226413.4:c.949T>A | ENSP00000226413.4:p.Cys317Ser | |
| ENST00000420975.2:c.821T>A | ENSP00000397561.2:n.821T>A | |
| NM_000406.2:c.949T>A | NP_000397.1:p.Cys317Ser | |
| NM_001012763.1:c.*71T>A | NP_001012781.1:n.*71T>A | |
| NM_000406.3:c.949T>A MANE Select | NP_000397.1:p.Cys317Ser | |
| NM_001012763.2:c.*71T>A | NP_001012781.1:n.*71T>A |