Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144318607C>A , CM000670.2:g.144318607C>A | GRCh38 |
| NC_000008.10:g.145542270C>A , CM000670.1:g.145542270C>A | GRCh37 |
| NC_000008.9:g.145513078C>A | NCBI36 |
| NG_034192.1:g.13313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528718.6:c.469-41G>T MANE Select | ENSP00000482264.1:n.469-41G>T | |
| ENST00000332324.5:c.469-41G>T | ENSP00000332258.5:n.469-41G>T | |
| ENST00000524965.5:n.27-41G>T | ||
| ENST00000525371.1:n.459-41G>T | ||
| ENST00000528718.5:c.469-41G>T | ENSP00000482264.1:n.469-41G>T | |
| ENST00000531896.5:n.507-41G>T | ||
| NM_012079.5:c.469-41G>T | NP_036211.2:n.469-41G>T | |
| XM_011517356.1:c.298-41G>T | XP_011515658.1:n.298-41G>T | |
| XM_011517356.3:c.298-41G>T | XP_011515658.1:n.298-41G>T | |
| NM_012079.6:c.469-41G>T MANE Select | NP_036211.2:n.469-41G>T |