Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114671709C>T , CM000674.2:g.114671709C>T | GRCh38 |
| NC_000012.11:g.115109514C>T , CM000674.1:g.115109514C>T | GRCh37 |
| NC_000012.10:g.113593897C>T | NCBI36 |
| NG_008315.1:g.17456G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005996.4:c.*132G>A MANE Select | NP_005987.3:n.*132G>A |
| ENST00000349155.7:c.*132G>A MANE Select | ENSP00000257567.2:n.*132G>A |
| NM_005996.3:c.*132G>A | NP_005987.3:n.*132G>A |
| NM_016569.3:c.*132G>A | NP_057653.3:n.*132G>A |
| NM_016569.4:c.*132G>A | NP_057653.3:n.*132G>A |
| ENST00000257566.7:c.*132G>A | ENSP00000257566.3:n.*132G>A |
| ENST00000349155.6:c.*132G>A | ENSP00000257567.2:n.*132G>A |