Linked Data
ClinVar Variation Id:
683240
ClinVar RCV Id:
RCV000843394
dbSNP Id:
rs6830102
gnomAD v2:
4-178360476-C-A
gnomAD v3:
4-177439322-C-A
gnomAD v4:
4-177439322-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439322C>A , CM000666.2:g.177439322C>A | GRCh38 |
| NC_000004.11:g.178360476C>A , CM000666.1:g.178360476C>A | GRCh37 |
| NC_000004.10:g.178597470C>A | NCBI36 |
| NG_011845.2:g.8182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.394+254G>T MANE Select | ENSP00000264595.2:n.394+254G>T | |
| ENST00000264595.6:c.394+254G>T | ENSP00000264595.2:n.394+254G>T | |
| ENST00000502310.5:c.49+254G>T | ENSP00000423798.1:n.49+254G>T | |
| ENST00000506853.5:n.428+254G>T | ||
| ENST00000510635.1:c.90+254G>T | ||
| ENST00000510955.5:n.316-465G>T | ||
| NM_000027.3:c.394+254G>T | NP_000018.2:n.394+254G>T | |
| NM_001171988.1:c.394+254G>T | NP_001165459.1:n.394+254G>T | |
| NR_033655.1:n.522+254G>T | ||
| XM_006714123.2:c.394+254G>T | XP_006714186.1:n.394+254G>T | |
| XR_001741155.2:n.488+254G>T | ||
| NM_000027.4:c.394+254G>T MANE Select | NP_000018.2:n.394+254G>T | |
| NM_001171988.2:c.394+254G>T | NP_001165459.1:n.394+254G>T | |
| NR_033655.2:n.456+254G>T |