Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119925298C>A , CM000663.2:g.119925298C>A | GRCh38 |
| NC_000001.10:g.120467921C>A , CM000663.1:g.120467921C>A | GRCh37 |
| NC_000001.9:g.120269444C>A | NCBI36 |
| NG_008163.1:g.149356G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.4511+7G>T MANE Select | NP_077719.2:n.4511+7G>T |
| ENST00000256646.7:c.4511+7G>T MANE Select | ENSP00000256646.2:n.4511+7G>T |
| NM_024408.3:c.4511+7G>T | NP_077719.2:n.4511+7G>T |
| ENST00000256646.6:c.4511+7G>T | ENSP00000256646.2:n.4511+7G>T |
| XM_005270901.2:c.4394+7G>T | XP_005270958.1:n.4394+7G>T |
| XM_011541519.1:c.4499+7G>T | XP_011539821.1:n.4499+7G>T |
| XM_011541520.1:c.4394+7G>T | XP_011539822.1:n.4394+7G>T |