Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674452G>A , CM000674.2:g.114674452G>A | GRCh38 |
| NC_000012.11:g.115112257G>A , CM000674.1:g.115112257G>A | GRCh37 |
| NC_000012.10:g.113596640G>A | NCBI36 |
| NG_008315.1:g.14713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.1423C>T MANE Select | ENSP00000257567.2:p.Gln475Ter | |
| ENST00000257566.7:c.1483C>T | ENSP00000257566.3:p.Gln495Ter | |
| ENST00000349155.6:c.1423C>T | ENSP00000257567.2:p.Gln475Ter | |
| ENST00000613550.1:c.1423C>T | ENSP00000480048.1:p.Gln475Ter | |
| NM_005996.3:c.1423C>T | NP_005987.3:p.Gln475Ter | |
| NM_016569.3:c.1483C>T | NP_057653.3:p.Gln495Ter | |
| NM_005996.4:c.1423C>T MANE Select | NP_005987.3:p.Gln475Ter | |
| NM_016569.4:c.1483C>T | NP_057653.3:p.Gln495Ter |