Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269959T>G , CM000668.2:g.31269959T>G | GRCh38 |
| NC_000006.11:g.31237736T>G , CM000668.1:g.31237736T>G | GRCh37 |
| NC_000006.10:g.31345715T>G | NCBI36 |
| NG_029422.2:g.7173A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1015+7A>C MANE Select | ENSP00000365402.5:n.1015+7A>C | |
| ENST00000376228.9:c.1015+7A>C | ENSP00000365402.5:n.1015+7A>C | |
| ENST00000376237.8:c.*602+7A>C | ENSP00000365412.4:n.*602+7A>C | |
| ENST00000383329.7:c.1015+7A>C | ENSP00000372819.3:n.1015+7A>C | |
| ENST00000470363.5:n.340A>C | ||
| ENST00000487245.5:n.1374+7A>C | ||
| NM_002117.5:c.1015+7A>C | NP_002108.4:n.1015+7A>C | |
| NM_002117.6:c.1015+7A>C MANE Select | NP_002108.4:n.1015+7A>C |