Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48443863C>T , CM000681.2:g.48443863C>T | GRCh38 |
| NC_000019.9:g.48947120C>T , CM000681.1:g.48947120C>T | GRCh37 |
| NC_000019.8:g.53638932C>T | NCBI36 |
| NG_046925.1:g.3091C>T | |
| NG_052829.1:g.53989C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.3937C>T MANE Select | NP_000827.2:p.Arg1313Trp |
| ENST00000263269.4:c.3937C>T MANE Select | ENSP00000263269.2:p.Arg1313Trp |
| NM_000836.2:c.3937C>T | NP_000827.2:p.Arg1313Trp |
| ENST00000263269.3:c.3937C>T | ENSP00000263269.2:p.Arg1313Trp |
| XM_011526872.1:c.3937C>T | XP_011525174.1:p.Arg1313Trp |