Linked Data
ClinVar Variation Id:
375314
ClinVar RCV Id:
RCV000416347
dbSNP Id:
rs778457903
ExAC:
7:4822992 C / T
gnomAD v2:
7-4822992-C-T
gnomAD v3:
7-4783361-C-T
gnomAD v4:
7-4783361-C-T
PubMed:
PMID:24833714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4783361C>T , CM000669.2:g.4783361C>T | GRCh38 |
| NC_000007.13:g.4822992C>T , CM000669.1:g.4822992C>T | GRCh37 |
| NC_000007.12:g.4789518C>T | NCBI36 |
| NG_028111.1:g.12731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.170C>T | ||
| ENST00000496303.6:n.340-328C>T | ||
| ENST00000647984.1:c.225C>T | ENSP00000497794.1:p.Tyr75= | |
| ENST00000648925.1:c.412C>T | ENSP00000496830.1:p.Arg138Ter | |
| ENST00000649063.2:c.412C>T MANE Select | ENSP00000497815.1:p.Arg138Ter | |
| ENST00000650310.1:c.412C>T | ENSP00000497395.1:p.Arg138Ter | |
| ENST00000650451.1:c.180-842C>T | ENSP00000496998.1:n.180-842C>T | |
| ENST00000348624.4:c.412C>T | ENSP00000297562.4:p.Arg138Ter | |
| ENST00000477680.5:n.170C>T | ||
| ENST00000491375.1:n.39C>T | ||
| ENST00000496303.5:n.476C>T | ||
| NM_014855.2:c.412C>T | NP_055670.1:p.Arg138Ter | |
| XR_242109.1:n.437C>T | ||
| NM_001364858.1:c.-57C>T | NP_001351787.1:n.-57C>T | |
| NM_014855.3:c.412C>T MANE Select | NP_055670.1:p.Arg138Ter | |
| NR_157345.1:n.505C>T |