Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862854C>G , CM000666.2:g.4862854C>G | GRCh38 |
| NC_000004.11:g.4864581C>G , CM000666.1:g.4864581C>G | GRCh37 |
| NC_000004.10:g.4915482C>G | NCBI36 |
| NG_008121.1:g.8190C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.623C>G MANE Select | NP_002439.2:p.Ser208Trp |
| ENST00000382723.5:c.623C>G MANE Select | ENSP00000372170.4:p.Ser208Trp |
| ENST00000382723.4:c.623C>G | ENSP00000372170.4:p.Ser208Trp |
| ENST00000468421.1:n.335C>G |