Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247266G>T , CM000668.2:g.160247266G>T | GRCh38 |
| NC_000006.11:g.160668298G>T , CM000668.1:g.160668298G>T | GRCh37 |
| NC_000006.10:g.160588288G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.875C>A MANE Select | ENSP00000355920.3:p.Ser292Tyr | |
| ENST00000366952.1:c.812C>A | ENSP00000355919.1:p.Ser271Tyr | |
| ENST00000366953.7:c.875C>A | ENSP00000355920.3:p.Ser292Tyr | |
| ENST00000491092.1:n.772C>A | ||
| NM_003058.3:c.875C>A | NP_003049.2:p.Ser292Tyr | |
| NM_003058.4:c.875C>A MANE Select | NP_003049.2:p.Ser292Tyr |