Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35830918G>A , CM000681.2:g.35830918G>A | GRCh38 |
| NC_000019.9:g.36321820G>A , CM000681.1:g.36321820G>A | GRCh37 |
| NC_000019.8:g.41013660G>A | NCBI36 |
| NG_013356.2:g.43370C>T , LRG_693:g.43370C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3520C>T MANE Select | NP_004637.1:p.His1174Tyr |
| ENST00000378910.10:c.3520C>T MANE Select | ENSP00000368190.4:p.His1174Tyr |
| NM_004646.3:c.3520C>T , LRG_693t1:c.3520C>T | NP_004637.1:p.His1174Tyr |
| ENST00000353632.6:c.3400C>T | ENSP00000343634.5:p.His1134Tyr |
| ENST00000378910.9:c.3520C>T | ENSP00000368190.4:p.His1174Tyr |