Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6602153G>A , CM000671.2:g.6602153G>A | GRCh38 |
| NC_000009.11:g.6602153G>A , CM000671.1:g.6602153G>A | GRCh37 |
| NC_000009.10:g.6592153G>A | NCBI36 |
| NG_016397.1:g.48540C>T , LRG_643:g.48540C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1111C>T MANE Select | NP_000161.2:p.His371Tyr |
| ENST00000321612.8:c.1111C>T MANE Select | ENSP00000370737.4:p.His371Tyr |
| NM_000170.2:c.1111C>T , LRG_643t1:c.1111C>T | NP_000161.2:p.His371Tyr |
| ENST00000321612.6:c.1111C>T | ENSP00000370737.3:p.His371Tyr |
| ENST00000463305.1:n.195C>T | |
| ENST00000638654.1:c.358C>T | ENSP00000491101.1:p.His120Tyr |
| ENST00000639364.1:n.811C>T | |
| ENST00000639443.1:n.679C>T | |
| ENST00000639493.1:n.263C>T | |
| ENST00000639954.1:n.819C>T | |
| ENST00000640592.1:n.994C>T |