Linked Data
dbSNP Id:
rs768957946
ExAC:
11:66328122 C / T
gnomAD v2:
11-66328122-C-T
gnomAD v3:
11-66560651-C-T
gnomAD v4:
11-66560651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560651C>T , CM000673.2:g.66560651C>T | GRCh38 |
| NC_000011.9:g.66328122C>T , CM000673.1:g.66328122C>T | GRCh37 |
| NC_000011.8:g.66084698C>T | NCBI36 |
| NG_013304.2:g.18732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1756C>T MANE Select | ENSP00000426797.1:p.Gln586Ter | |
| ENST00000502692.5:c.1885C>T | ENSP00000422007.1:p.Gln629Ter | |
| ENST00000513398.1:c.1756C>T | ENSP00000426797.1:p.Gln586Ter | |
| NM_001104.3:c.1756C>T | NP_001095.2:p.Gln586Ter | |
| NM_001258371.2:c.1885C>T | NP_001245300.2:p.Gln629Ter | |
| NM_001104.4:c.1756C>T MANE Select | NP_001095.2:p.Gln586Ter | |
| NM_001258371.3:c.1885C>T | NP_001245300.2:p.Gln629Ter |