Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14483031C>A , CM000673.2:g.14483031C>A | GRCh38 |
| NC_000011.9:g.14504577C>A , CM000673.1:g.14504577C>A | GRCh37 |
| NC_000011.8:g.14461153C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439561.7:c.957+1G>T MANE Select | ENSP00000397873.2:n.957+1G>T | |
| ENST00000249923.7:c.957+1G>T | ENSP00000249923.3:n.957+1G>T | |
| ENST00000439561.6:c.957+1G>T | ENSP00000397873.2:n.957+1G>T | |
| ENST00000534234.5:c.957+1G>T | ENSP00000436383.1:n.957+1G>T | |
| NM_001144061.1:c.957+1G>T | NP_001137533.1:n.957+1G>T | |
| NM_001144062.1:c.957+1G>T | NP_001137534.1:n.957+1G>T | |
| NM_016451.4:c.957+1G>T | NP_057535.1:n.957+1G>T | |
| NM_001144061.2:c.957+1G>T MANE Select | NP_001137533.1:n.957+1G>T | |
| NM_001144062.2:c.957+1G>T | NP_001137534.1:n.957+1G>T | |
| NM_016451.5:c.957+1G>T | NP_057535.1:n.957+1G>T |