Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965334T>A , CM000681.2:g.48965334T>A | GRCh38 |
| NC_000019.9:g.49468591T>A , CM000681.1:g.49468591T>A | GRCh37 |
| NC_000019.8:g.54160403T>A | NCBI36 |
| NG_008152.1:g.5026T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-174T>A MANE Select | ENSP00000366525.2:n.-174T>A | |
| ENST00000331825.10:c.-174T>A | ENSP00000366525.2:n.-174T>A | |
| ENST00000622577.2:c.-174T>A | ENSP00000484043.1:n.-174T>A | |
| NM_000146.3:c.-174T>A | NP_000137.2:n.-174T>A | |
| XM_024451447.1:c.337T>A | XP_024307215.1:p.Ser113Thr | |
| NM_000146.4:c.-174T>A MANE Select | NP_000137.2:n.-174T>A |