Linked Data
dbSNP Id:
rs373665363
ExAC:
12:65640119 C / T
gnomAD v2:
12-65640119-C-T
gnomAD v3:
12-65246339-C-T
gnomAD v4:
12-65246339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246339C>T , CM000674.2:g.65246339C>T | GRCh38 |
| NC_000012.11:g.65640119C>T , CM000674.1:g.65640119C>T | GRCh37 |
| NC_000012.10:g.63926386C>T | NCBI36 |
| NG_016210.1:g.81769C>T | |
| NG_016210.2:g.81769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.*14C>T MANE Select | ENSP00000308369.2:n.*14C>T | |
| ENST00000308330.2:c.*14C>T | ENSP00000308369.2:n.*14C>T | |
| ENST00000539442.1:n.732C>T | ||
| ENST00000545026.1:n.568C>T | ||
| NM_001167614.1:c.*14C>T | NP_001161086.1:n.*14C>T | |
| NM_014319.4:c.*14C>T | NP_055134.2:n.*14C>T | |
| NM_014319.5:c.*14C>T MANE Select | NP_055134.2:n.*14C>T | |
| NM_001167614.2:c.*14C>T | NP_001161086.1:n.*14C>T |