Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001252G>T , CM000683.2:g.46001252G>T | GRCh38 |
| NC_000021.8:g.47421166G>T , CM000683.1:g.47421166G>T | GRCh37 |
| NC_000021.7:g.46245594G>T | NCBI36 |
| NG_008674.1:g.24504G>T , LRG_475:g.24504G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1823-1G>T MANE Select | NP_001839.2:n.1823-1G>T |
| ENST00000361866.8:c.1823-1G>T MANE Select | ENSP00000355180.3:n.1823-1G>T |
| NM_001848.2:c.1823-1G>T , LRG_475t1:c.1823-1G>T | NP_001839.2:n.1823-1G>T |
| ENST00000361866.7:c.1823-1G>T | ENSP00000355180.3:n.1823-1G>T |
| ENST00000463060.5:n.222-1G>T | |
| ENST00000463060.6:n.222-1G>T | |
| ENST00000498614.5:n.56G>T | |
| ENST00000612273.1:c.1817-1G>T | ENSP00000483630.1:n.1817-1G>T |