Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320658A>G , CM000666.2:g.119320658A>G | GRCh38 |
| NC_000004.11:g.120241813A>G , CM000666.1:g.120241813A>G | GRCh37 |
| NC_000004.10:g.120461261A>G | NCBI36 |
| NG_011444.1:g.6504T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+12T>C MANE Select | ENSP00000274024.3:n.240+12T>C | |
| ENST00000274024.3:c.240+12T>C | ENSP00000274024.3:n.240+12T>C | |
| NM_000134.3:c.240+12T>C | NP_000125.2:n.240+12T>C | |
| NM_000134.4:c.240+12T>C MANE Select | NP_000125.2:n.240+12T>C |