Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965344C>A , CM000681.2:g.48965344C>A | GRCh38 |
| NC_000019.9:g.49468601C>A , CM000681.1:g.49468601C>A | GRCh37 |
| NC_000019.8:g.54160413C>A | NCBI36 |
| NG_008152.1:g.5036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-164C>A MANE Select | ENSP00000366525.2:n.-164C>A | |
| ENST00000331825.10:c.-164C>A | ENSP00000366525.2:n.-164C>A | |
| ENST00000622577.2:c.-164C>A | ENSP00000484043.1:n.-164C>A | |
| NM_000146.3:c.-164C>A | NP_000137.2:n.-164C>A | |
| XM_024451447.1:c.347C>A | XP_024307215.1:p.Ser116Ter | |
| NM_000146.4:c.-164C>A MANE Select | NP_000137.2:n.-164C>A |