Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895260T>C , CM000685.2:g.141895260T>C | GRCh38 |
| NC_000023.10:g.140983046T>C , CM000685.1:g.140983046T>C | GRCh37 |
| NC_000023.9:g.140810712T>C | NCBI36 |
| NG_013272.1:g.61945T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.910-9T>C MANE Select | ENSP00000298296.1:n.910-9T>C | |
| ENST00000443323.2:c.-118-1171T>C | ENSP00000438254.1:n.-118-1171T>C | |
| ENST00000483584.5:n.150-9T>C | ||
| ENST00000544766.5:c.-378-9T>C | ENSP00000440444.1:n.-378-9T>C | |
| NM_138702.1:c.910-9T>C MANE Select | NP_619647.1:n.910-9T>C | |
| NM_177456.2:c.-378-9T>C | NP_803251.1:n.-378-9T>C | |
| XM_011531267.1:c.-310T>C | XP_011529569.1:n.-310T>C | |
| XM_011531267.3:c.-310T>C | XP_011529569.1:n.-310T>C | |
| XM_017029265.2:c.-378-9T>C | XP_016884754.1:n.-378-9T>C |