Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622786C>A , CM000668.2:g.31622786C>A | GRCh38 |
| NC_000006.11:g.31590563C>A , CM000668.1:g.31590563C>A | GRCh37 |
| NC_000006.10:g.31698542C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.13C>A | ENSP00000516471.1:p.Arg5Ser | |
| ENST00000376033.3:c.-4C>A MANE Select | ENSP00000365201.2:n.-4C>A | |
| ENST00000376007.8:c.-4C>A | ENSP00000365175.4:n.-4C>A | |
| ENST00000376033.2:c.-4C>A | ENSP00000365201.2:n.-4C>A | |
| ENST00000469577.5:n.136-1475C>A | ||
| NM_004638.3:c.-4C>A | NP_004629.3:n.-4C>A | |
| NM_080686.2:c.-4C>A | NP_542417.2:n.-4C>A | |
| XM_011514890.1:c.-4C>A | XP_011513192.1:n.-4C>A | |
| NM_004638.4:c.-4C>A MANE Select | NP_004629.3:n.-4C>A | |
| NM_080686.3:c.-4C>A | NP_542417.2:n.-4C>A |