Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94111692T>A , CM000663.2:g.94111692T>A | GRCh38 |
| NC_000001.10:g.94577248T>A , CM000663.1:g.94577248T>A | GRCh37 |
| NC_000001.9:g.94349836T>A | NCBI36 |
| NG_009073.1:g.14458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.161-113A>T MANE Select | ENSP00000359245.3:n.161-113A>T | |
| ENST00000649773.1:c.161-113A>T | ENSP00000496882.1:n.161-113A>T | |
| ENST00000370225.3:c.161-113A>T | ENSP00000359245.3:n.161-113A>T | |
| NM_000350.2:c.161-113A>T | NP_000341.2:n.161-113A>T | |
| NM_000350.3:c.161-113A>T MANE Select | NP_000341.2:n.161-113A>T |