Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352074A>G , CM000671.2:g.133352074A>G | GRCh38 |
| NC_000009.10:g.135208750A>G | NCBI36 |
| NG_008477.1:g.9433T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.820T>C MANE Select | NP_003163.1:p.Tyr274His |
| ENST00000371974.8:c.820T>C MANE Select | ENSP00000361042.3:p.Tyr274His |
| NM_001280787.1:c.493T>C | NP_001267716.1:p.Tyr165His |
| NM_003172.3:c.820T>C | NP_003163.1:p.Tyr274His |
| ENST00000371974.7:c.820T>C | ENSP00000361042.3:p.Tyr274His |
| ENST00000437995.1:n.730T>C | |
| ENST00000495952.5:n.810T>C | |
| ENST00000615505.4:c.493T>C | ENSP00000482067.1:p.Tyr165His |
| XM_011518942.1:c.493T>C | XP_011517244.1:p.Tyr165His |