Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226961G>A , CM000664.2:g.29226961G>A | GRCh38 |
| NC_000002.11:g.29449827G>A , CM000664.1:g.29449827G>A | GRCh37 |
| NC_000002.10:g.29303331G>A | NCBI36 |
| NG_009445.1:g.699606C>T , LRG_488:g.699606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3028C>T MANE Select | ENSP00000373700.3:p.His1010Tyr | |
| ENST00000431873.6:c.194C>T | ||
| ENST00000389048.7:c.3028C>T | ENSP00000373700.3:p.His1010Tyr | |
| ENST00000618119.4:c.1897C>T | ENSP00000482733.1:p.His633Tyr | |
| NM_004304.4:c.3028C>T | NP_004295.2:p.His1010Tyr | |
| XM_024452778.1:c.181C>T | XP_024308546.1:p.His61Tyr | |
| XR_001738688.2:n.3884C>T | ||
| NM_004304.5:c.3028C>T MANE Select | NP_004295.2:p.His1010Tyr |