Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144382C>G , CM000670.2:g.38144382C>G | GRCh38 |
| NC_000008.10:g.38001900C>G , CM000670.1:g.38001900C>G | GRCh37 |
| NC_000008.9:g.38121057C>G | NCBI36 |
| NG_011827.1:g.11701G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.749G>C MANE Select | NP_000340.2:p.Trp250Ser |
| ENST00000276449.9:c.749G>C MANE Select | ENSP00000276449.3:p.Trp250Ser |
| NM_000349.2:c.749G>C | NP_000340.2:p.Trp250Ser |
| ENST00000276449.8:c.749G>C | ENSP00000276449.3:p.Trp250Ser |
| ENST00000520114.1:n.2718G>C | |
| ENST00000522050.1:c.591G>C | |
| XM_006716392.1:c.655G>C | XP_006716455.1:p.Gly219Arg |