Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103537342T>C , CM000663.2:g.103537342T>C | GRCh38 |
| NC_000001.10:g.104079964T>C , CM000663.1:g.104079964T>C | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.625T>C MANE Select | ENSP00000391432.1:p.Tyr209His | |
| ENST00000423855.6:c.625T>C | ENSP00000391432.1:p.Tyr209His | |
| ENST00000524631.5:c.625T>C | ENSP00000437278.1:p.Tyr209His | |
| ENST00000527062.5:c.148T>C | ENSP00000436315.1:p.Tyr50His | |
| ENST00000533099.5:c.625T>C | ENSP00000432886.1:p.Tyr209His | |
| NM_017619.3:c.625T>C | NP_060089.1:p.Tyr209His | |
| NM_017619.4:c.625T>C MANE Select | NP_060089.1:p.Tyr209His |