Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837618G>C , CM000685.2:g.154837618G>C | GRCh38 |
| NC_000023.10:g.154065893G>C , CM000685.1:g.154065893G>C | GRCh37 |
| NC_000023.9:g.153719087G>C | NCBI36 |
| NG_011403.1:g.190106C>G | |
| NG_033065.1:g.2045C>G | |
| NG_011403.2:g.190106C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7035C>G MANE Select | NP_000123.1:p.Cys2345Trp |
| ENST00000360256.9:c.7035C>G MANE Select | ENSP00000353393.4:p.Cys2345Trp |
| NM_000132.3:c.7035C>G | NP_000123.1:p.Cys2345Trp |
| NM_019863.2:c.630C>G | NP_063916.1:p.Cys210Trp |
| NM_019863.3:c.630C>G | NP_063916.1:p.Cys210Trp |
| ENST00000330287.10:c.630C>G | ENSP00000327895.6:p.Cys210Trp |
| ENST00000360256.8:c.7035C>G | ENSP00000353393.4:p.Cys2345Trp |
| ENST00000644698.1:c.768C>G | ENSP00000495706.1:p.Cys256Trp |
| XM_011531126.1:c.6930C>G | XP_011529428.1:p.Cys2310Trp |