Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848673C>A , CM000681.2:g.35848673C>A | GRCh38 |
| NC_000019.9:g.36339575C>A , CM000681.1:g.36339575C>A | GRCh37 |
| NC_000019.8:g.41031415C>A | NCBI36 |
| NG_013356.2:g.25615G>T , LRG_693:g.25615G>T | |
| NG_051206.1:g.2039C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1134G>T MANE Select | NP_004637.1:p.Trp378Cys |
| ENST00000378910.10:c.1134G>T MANE Select | ENSP00000368190.4:p.Trp378Cys |
| NM_004646.3:c.1134G>T , LRG_693t1:c.1134G>T | NP_004637.1:p.Trp378Cys |
| ENST00000353632.6:c.1134G>T | ENSP00000343634.5:p.Trp378Cys |
| ENST00000378910.9:c.1134G>T | ENSP00000368190.4:p.Trp378Cys |
| ENST00000592132.1:n.141G>T |