Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807629T>A , CM000674.2:g.52807629T>A | GRCh38 |
| NC_000012.11:g.53201413T>A , CM000674.1:g.53201413T>A | GRCh37 |
| NC_000012.10:g.51487680T>A | NCBI36 |
| NG_007380.1:g.11923A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.1346+15A>T MANE Select | ENSP00000448220.1:n.1346+15A>T | |
| ENST00000548097.5:c.*858+15A>T | ENSP00000449755.1:n.*858+15A>T | |
| ENST00000551956.1:c.1346+15A>T | ENSP00000448220.1:n.1346+15A>T | |
| NM_002272.3:c.1346+15A>T | NP_002263.3:n.1346+15A>T | |
| NM_002272.4:c.1346+15A>T MANE Select | NP_002263.3:n.1346+15A>T |