Linked Data
dbSNP Id:
rs139254649
ExAC:
12:65640084 C / T
gnomAD v2:
12-65640084-C-T
gnomAD v3:
12-65246304-C-T
gnomAD v4:
12-65246304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246304C>T , CM000674.2:g.65246304C>T | GRCh38 |
| NC_000012.11:g.65640084C>T , CM000674.1:g.65640084C>T | GRCh37 |
| NC_000012.10:g.63926351C>T | NCBI36 |
| NG_016210.1:g.81734C>T | |
| NG_016210.2:g.81734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2715C>T MANE Select | ENSP00000308369.2:p.Thr905= | |
| ENST00000308330.2:c.2715C>T | ENSP00000308369.2:p.Thr905= | |
| ENST00000539442.1:n.697C>T | ||
| ENST00000545026.1:n.533C>T | ||
| NM_001167614.1:c.2712C>T | NP_001161086.1:p.Thr904= | |
| NM_014319.4:c.2715C>T | NP_055134.2:p.Thr905= | |
| NM_014319.5:c.2715C>T MANE Select | NP_055134.2:p.Thr905= | |
| NM_001167614.2:c.2712C>T | NP_001161086.1:p.Thr904= |