Linked Data
dbSNP Id:
rs778072379
ExAC:
11:121177722 C / T
gnomAD v2:
11-121177722-C-T
gnomAD v3:
11-121307013-C-T
gnomAD v4:
11-121307013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307013C>T , CM000673.2:g.121307013C>T | GRCh38 |
| NC_000011.9:g.121177722C>T , CM000673.1:g.121177722C>T | GRCh37 |
| NC_000011.8:g.120682932C>T | NCBI36 |
| NG_009446.1:g.19335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.445-44C>T MANE Select | ENSP00000264027.4:n.445-44C>T | |
| ENST00000264027.8:c.445-44C>T | ENSP00000264027.4:n.445-44C>T | |
| ENST00000392789.2:c.445-44C>T | ENSP00000376539.2:n.445-44C>T | |
| ENST00000527183.1:n.738-44C>T | ||
| ENST00000527762.5:c.466-44C>T | ENSP00000436290.1:n.466-44C>T | |
| ENST00000528991.1:n.138-44C>T | ||
| ENST00000534230.5:c.445-44C>T | ENSP00000432550.1:n.445-44C>T | |
| NM_001024956.2:c.445-44C>T | NP_001020127.1:n.445-44C>T | |
| NM_006918.4:c.445-44C>T | NP_008849.2:n.445-44C>T | |
| NM_006918.5:c.445-44C>T MANE Select | NP_008849.2:n.445-44C>T | |
| NM_001024956.3:c.445-44C>T | NP_001020127.1:n.445-44C>T |