Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269480C>G , CM000668.2:g.31269480C>G | GRCh38 |
| NC_000006.11:g.31237257C>G , CM000668.1:g.31237257C>G | GRCh37 |
| NC_000006.10:g.31345236C>G | NCBI36 |
| NG_029422.2:g.7652G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1048+13G>C MANE Select | ENSP00000365402.5:n.1048+13G>C | |
| ENST00000376228.9:c.1048+13G>C | ENSP00000365402.5:n.1048+13G>C | |
| ENST00000376237.8:c.*635+13G>C | ENSP00000365412.4:n.*635+13G>C | |
| ENST00000383329.7:c.1066+13G>C | ENSP00000372819.3:n.1066+13G>C | |
| ENST00000466892.5:n.187G>C | ||
| ENST00000470363.5:n.806+13G>C | ||
| ENST00000487245.5:n.1407+13G>C | ||
| NM_002117.5:c.1048+13G>C | NP_002108.4:n.1048+13G>C | |
| NM_002117.6:c.1048+13G>C MANE Select | NP_002108.4:n.1048+13G>C |