Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495158G>C , CM000685.2:g.54495158G>C | GRCh38 |
| NC_000023.10:g.54521591G>C , CM000685.1:g.54521591G>C | GRCh37 |
| NC_000023.9:g.54538316G>C | NCBI36 |
| NG_008054.1:g.6009C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.275C>G MANE Select | ENSP00000364277.3:p.Ser92Cys | |
| ENST00000375135.3:c.275C>G | ENSP00000364277.3:p.Ser92Cys | |
| NM_004463.2:c.275C>G | NP_004454.2:p.Ser92Cys | |
| NM_004463.3:c.275C>G MANE Select | NP_004454.2:p.Ser92Cys |