Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571554C>A , CM000663.2:g.154571554C>A | GRCh38 |
| NC_000001.10:g.154544030C>A , CM000663.1:g.154544030C>A | GRCh37 |
| NC_000001.9:g.152810654C>A | NCBI36 |
| NG_008027.1:g.8774C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.731C>A MANE Select | ENSP00000357461.3:p.Pro244His | |
| ENST00000636034.1:c.731C>A | ENSP00000489703.1:p.Pro244His | |
| ENST00000637900.1:c.737C>A | ENSP00000490474.1:p.Pro246His | |
| ENST00000368476.3:c.731C>A | ENSP00000357461.3:p.Pro244His | |
| NM_000748.2:c.731C>A | NP_000739.1:p.Pro244His | |
| XM_017000180.2:c.221C>A | XP_016855669.1:p.Pro74His | |
| XR_001736952.2:n.983C>A | ||
| NM_000748.3:c.731C>A MANE Select | NP_000739.1:p.Pro244His |