Linked Data
dbSNP Id:
rs16977065
gnomAD v2:
18-40437651-C-T
gnomAD v3:
18-42857686-C-T
gnomAD v4:
18-42857686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.42857686C>T , CM000680.2:g.42857686C>T | GRCh38 |
| NC_000018.9:g.40437651C>T , CM000680.1:g.40437651C>T | GRCh37 |
| NC_000018.8:g.38691649C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326695.10:c.426+65886G>A MANE Select | ENSP00000321805.4:n.426+65886G>A | |
| ENST00000650392.1:c.*56-12517G>A | ENSP00000497708.1:n.*56-12517G>A | |
| ENST00000326695.9:c.426+65886G>A | ENSP00000321805.4:n.426+65886G>A | |
| ENST00000589109.5:c.*28+63011G>A | ENSP00000467217.1:n.*28+63011G>A | |
| ENST00000590910.1:c.488+65886G>A | ENSP00000466620.1:n.488+65886G>A | |
| NM_001272077.1:c.*28+63011G>A | NP_001259006.1:n.*28+63011G>A | |
| NM_002930.3:c.426+65886G>A | NP_002921.1:n.426+65886G>A | |
| NM_002930.4:c.426+65886G>A MANE Select | NP_002921.1:n.426+65886G>A | |
| NM_001272077.2:c.*28+63011G>A | NP_001259006.1:n.*28+63011G>A |