Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199473C>A , CM000671.2:g.137199473C>A | GRCh38 |
| NC_000009.11:g.140093925C>A , CM000671.1:g.140093925C>A | GRCh37 |
| NC_000009.10:g.139213746C>A | NCBI36 |
| NG_027801.1:g.6239G>T | |
| NG_027801.2:g.9721G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.1239G>T MANE Select | NP_001121700.2:p.Trp413Cys |
| ENST00000409012.6:c.1239G>T MANE Select | ENSP00000387100.4:p.Trp413Cys |
| NM_001128228.2:c.1239G>T | NP_001121700.2:p.Trp413Cys |
| ENST00000333046.8:c.633G>T | ENSP00000327617.4:p.Trp211Cys |
| ENST00000409012.4:c.1239G>T | ENSP00000387100.4:p.Trp413Cys |
| ENST00000541945.1:n.90+4631G>T |