Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674636G>T , CM000674.2:g.114674636G>T | GRCh38 |
| NC_000012.11:g.115112441G>T , CM000674.1:g.115112441G>T | GRCh37 |
| NC_000012.10:g.113596824G>T | NCBI36 |
| NG_008315.1:g.14529C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1239C>A MANE Select | ENSP00000257567.2:p.Pro413= | |
| ENST00000257566.7:c.1299C>A | ENSP00000257566.3:p.Pro433= | |
| ENST00000349155.6:c.1239C>A | ENSP00000257567.2:p.Pro413= | |
| ENST00000613550.1:c.1239C>A | ENSP00000480048.1:p.Pro413= | |
| NM_005996.3:c.1239C>A | NP_005987.3:p.Pro413= | |
| NM_016569.3:c.1299C>A | NP_057653.3:p.Pro433= | |
| NM_005996.4:c.1239C>A MANE Select | NP_005987.3:p.Pro413= | |
| NM_016569.4:c.1299C>A | NP_057653.3:p.Pro433= |