Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965348A>G , CM000681.2:g.48965348A>G | GRCh38 |
| NC_000019.9:g.49468605A>G , CM000681.1:g.49468605A>G | GRCh37 |
| NC_000019.8:g.54160417A>G | NCBI36 |
| NG_008152.1:g.5040A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-160A>G MANE Select | ENSP00000366525.2:n.-160A>G | |
| ENST00000331825.10:c.-160A>G | ENSP00000366525.2:n.-160A>G | |
| ENST00000622577.2:c.-160A>G | ENSP00000484043.1:n.-160A>G | |
| NM_000146.3:c.-160A>G | NP_000137.2:n.-160A>G | |
| XM_024451447.1:c.351A>G | XP_024307215.1:p.Thr117= | |
| NM_000146.4:c.-160A>G MANE Select | NP_000137.2:n.-160A>G |