Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42362542C>T , CM000681.2:g.42362542C>T | GRCh38 |
| NC_000019.9:g.42866694C>T , CM000681.1:g.42866694C>T | GRCh37 |
| NC_000019.8:g.47558534C>T | NCBI36 |
| NG_033030.1:g.41934C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.6003C>T MANE Select | NP_001258867.1:p.Cys2001= |
| ENST00000251268.11:c.6003C>T MANE Select | ENSP00000251268.5:p.Cys2001= |
| NM_001271938.1:c.6003C>T | NP_001258867.1:p.Cys2001= |
| NM_001410.2:c.5802C>T | NP_001401.2:p.Cys1934= |
| NM_001410.3:c.5802C>T | NP_001401.2:p.Cys1934= |
| ENST00000251268.10:c.6003C>T | ENSP00000251268.5:p.Cys2001= |
| ENST00000334370.8:c.5802C>T | ENSP00000334219.4:p.Cys1934= |
| ENST00000378073.5:c.-1083C>T | ENSP00000367313.4:n.-1083C>T |
| ENST00000598762.1:c.161+329C>T |