Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16576326C>T , CM000681.2:g.16576326C>T | GRCh38 |
| NC_000019.9:g.16687137C>T , CM000681.1:g.16687137C>T | GRCh37 |
| NC_000019.8:g.16548137C>T | NCBI36 |
| NG_031959.2:g.56879G>A , LRG_422:g.56879G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004831.5:c.1504G>A MANE Select | NP_004822.2:p.Ala502Thr |
| ENST00000263390.8:c.1504G>A MANE Select | ENSP00000263390.3:p.Ala502Thr |
| NM_004831.3:c.1504G>A | NP_004822.2:p.Ala502Thr |
| ENST00000263390.7:c.1504G>A | ENSP00000263390.2:p.Ala502Thr |
| ENST00000409035.1:c.1211+317G>A | ENSP00000386951.2:n.1211+317G>A |
| ENST00000597244.1:n.2452G>A | |
| ENST00000611692.4:c.1148G>A | ENSP00000484490.1:n.1148G>A |
| XR_936359.1:n.475-1840C>T | |
| XR_936359.2:n.475-1840C>T | |
| XR_936360.1:n.303-1840C>T | |
| XR_936360.2:n.304-1840C>T |