Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15438508A>G , CM000663.2:g.15438508A>G | GRCh38 |
| NC_000001.10:g.15765004A>G , CM000663.1:g.15765004A>G | GRCh37 |
| NC_000001.9:g.15637591A>G | NCBI36 |
| NG_009253.1:g.5067A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.40+4A>G MANE Select | NP_009203.2:n.40+4A>G |
| ENST00000375949.5:c.40+4A>G MANE Select | ENSP00000365116.4:n.40+4A>G |
| NM_007272.2:c.40+4A>G | NP_009203.2:n.40+4A>G |
| ENST00000375943.6:c.40+4A>G | ENSP00000365110.2:n.40+4A>G |
| ENST00000375949.4:c.40+4A>G | ENSP00000365116.4:n.40+4A>G |
| ENST00000476813.5:n.52+4A>G | |
| XM_011540550.1:c.40+4A>G | XP_011538852.1:n.40+4A>G |