Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965347C>G , CM000681.2:g.48965347C>G | GRCh38 |
| NC_000019.9:g.49468604C>G , CM000681.1:g.49468604C>G | GRCh37 |
| NC_000019.8:g.54160416C>G | NCBI36 |
| NG_008152.1:g.5039C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.-161C>G MANE Select | NP_000137.2:n.-161C>G |
| ENST00000331825.11:c.-161C>G MANE Select | ENSP00000366525.2:n.-161C>G |
| NM_000146.3:c.-161C>G | NP_000137.2:n.-161C>G |
| ENST00000331825.10:c.-161C>G | ENSP00000366525.2:n.-161C>G |
| ENST00000622577.2:c.-161C>G | ENSP00000484043.1:n.-161C>G |
| XM_024451447.1:c.350C>G | XP_024307215.1:p.Thr117Arg |