gnomAD v4:
Joint Max Group AF
0.00000902 (SAS)
Exomes Max Group AF
0.00000954 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174428G>C , CM000663.2:g.186174428G>C | GRCh38 |
| NC_000001.10:g.186143560G>C , CM000663.1:g.186143560G>C | GRCh37 |
| NC_000001.9:g.184410183G>C | NCBI36 |
| NG_011841.1:g.444878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15815-86G>C MANE Select | ENSP00000271588.4:n.15815-86G>C | |
| ENST00000271588.8:c.15815-86G>C | ENSP00000271588.4:n.15815-86G>C | |
| ENST00000414277.1:c.191-86G>C | ENSP00000406205.1:n.191-86G>C | |
| NM_031935.2:c.15815-86G>C | NP_114141.2:n.15815-86G>C | |
| XM_011510037.1:c.15530-86G>C | XP_011508339.1:n.15530-86G>C | |
| XM_011510038.1:c.15815-86G>C | XP_011508340.1:n.15815-86G>C | |
| XM_011510038.3:c.15815-86G>C | XP_011508340.1:n.15815-86G>C | |
| XM_017002437.1:c.13838-86G>C | XP_016857926.1:n.13838-86G>C | |
| NM_031935.3:c.15815-86G>C MANE Select | NP_114141.2:n.15815-86G>C |