dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36778627G>A , CM000682.2:g.36778627G>A | GRCh38 |
| NC_000020.10:g.35407030G>A , CM000682.1:g.35407030G>A | GRCh37 |
| NC_000020.9:g.34840444G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237536.9:c.*7858C>T MANE Select | ENSP00000237536.4:n.*7858C>T | |
| ENST00000237536.8:c.*7858C>T | ENSP00000237536.4:n.*7858C>T | |
| ENST00000279034.10:c.2994-796C>T | ENSP00000279034.5:n.2994-796C>T | |
| NM_199181.2:c.2994-796C>T | NP_954650.2:n.2994-796C>T | |
| NM_080627.3:c.*7858C>T | NP_542194.2:n.*7858C>T | |
| NM_080627.4:c.*7858C>T MANE Select | NP_542194.2:n.*7858C>T | |
| NM_199181.3:c.2994-796C>T | NP_954650.2:n.2994-796C>T |