Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151997C>A , CM000681.2:g.55151997C>A | GRCh38 |
| NC_000019.9:g.55663365C>A , CM000681.1:g.55663365C>A | GRCh37 |
| NC_000019.8:g.60355177C>A | NCBI36 |
| NG_007866.2:g.10736G>T , LRG_432:g.10736G>T | |
| NG_011829.2:g.2242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.550-80G>T MANE Select | ENSP00000341838.5:n.550-80G>T | |
| ENST00000665070.1:c.583-80G>T | ENSP00000499482.1:n.583-80G>T | |
| ENST00000344887.9:c.550-80G>T | ENSP00000341838.5:n.550-80G>T | |
| ENST00000585806.5:n.549-80G>T | ||
| ENST00000588882.1:c.475-80G>T | ENSP00000466729.1:n.475-80G>T | |
| ENST00000589864.1:n.378-80G>T | ||
| NM_000363.4:c.550-80G>T , LRG_432t1:c.550-80G>T | NP_000354.4:n.550-80G>T | |
| NM_000363.5:c.550-80G>T MANE Select | NP_000354.4:n.550-80G>T |