Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130828G>A , CM000665.2:g.14130828G>A | GRCh38 |
| NC_000003.11:g.14172328G>A , CM000665.1:g.14172328G>A | GRCh37 |
| NC_000003.10:g.14147329G>A | NCBI36 |
| NG_008975.1:g.10889G>A , LRG_435:g.10889G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.169G>A MANE Select | NP_077310.1:p.Ala57Thr |
| ENST00000306077.5:c.169G>A MANE Select | ENSP00000303992.5:p.Ala57Thr |
| NM_024334.2:c.169G>A , LRG_435t1:c.169G>A | NP_077310.1:p.Ala57Thr |
| ENST00000306077.4:c.169G>A | ENSP00000303992.4:p.Ala57Thr |
| ENST00000432444.1:c.*199G>A | ENSP00000395617.1:n.*199G>A |
| ENST00000432444.2:c.*199G>A | ENSP00000395617.1:n.*199G>A |
| XM_011534109.1:c.64G>A | XP_011532411.1:p.Ala22Thr |
| XM_017007176.2:c.64G>A | XP_016862665.1:p.Ala22Thr |