gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160596961G>T , CM000668.2:g.160596961G>T | GRCh38 |
| NC_000006.11:g.161017993G>T , CM000668.1:g.161017993G>T | GRCh37 |
| NC_000006.10:g.160937983G>T | NCBI36 |
| NG_016147.1:g.74415C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.3288-1426C>A MANE Select | ENSP00000321334.6:n.3288-1426C>A | |
| ENST00000316300.9:c.3288-1426C>A | ENSP00000321334.5:n.3288-1426C>A | |
| ENST00000447678.2:c.1029-1426C>A | ENSP00000395608.2:n.1029-1426C>A | |
| NM_005577.2:c.3288-1426C>A | NP_005568.2:n.3288-1426C>A | |
| NM_005577.3:c.3288-1426C>A | NP_005568.2:n.3288-1426C>A | |
| NM_005577.4:c.3288-1426C>A MANE Select | NP_005568.2:n.3288-1426C>A |