Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003873C>G , CM000679.2:g.8003873C>G | GRCh38 |
| NC_000017.10:g.7907191C>G , CM000679.1:g.7907191C>G | GRCh37 |
| NC_000017.9:g.7847916C>G | NCBI36 |
| NG_009092.1:g.6204C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.743C>G MANE Select | NP_000171.1:p.Ser248Trp |
| ENST00000254854.5:c.743C>G MANE Select | ENSP00000254854.4:p.Ser248Trp |
| NM_000180.3:c.743C>G | NP_000171.1:p.Ser248Trp |
| ENST00000254854.4:c.743C>G | ENSP00000254854.4:p.Ser248Trp |
| XM_011523816.1:c.743C>G | XP_011522118.1:p.Ser248Trp |