Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215965390C>T , CM000663.2:g.215965390C>T | GRCh38 |
| NC_000001.10:g.216138732C>T , CM000663.1:g.216138732C>T | GRCh37 |
| NC_000001.9:g.214205355C>T | NCBI36 |
| NG_009497.1:g.463007G>A | |
| NG_009497.2:g.463059G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.7047G>A MANE Select | NP_996816.3:p.Trp2349Ter |
| ENST00000307340.8:c.7047G>A MANE Select | ENSP00000305941.3:p.Trp2349Ter |
| NM_206933.2:c.7047G>A | NP_996816.2:p.Trp2349Ter |
| NM_206933.3:c.7047G>A | NP_996816.2:p.Trp2349Ter |
| ENST00000307340.7:c.7047G>A | ENSP00000305941.3:p.Trp2349Ter |
| ENST00000674083.1:c.7047G>A | ENSP00000501296.1:p.Trp2349Ter |