Linked Data
ClinVar Variation Id:
1197942
ClinVar RCV Id:
RCV001561940
dbSNP Id:
rs149652332
gnomAD v2:
4-178360445-G-T
gnomAD v3:
4-177439291-G-T
gnomAD v4:
4-177439291-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439291G>T , CM000666.2:g.177439291G>T | GRCh38 |
| NC_000004.11:g.178360445G>T , CM000666.1:g.178360445G>T | GRCh37 |
| NC_000004.10:g.178597439G>T | NCBI36 |
| NG_011845.2:g.8213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.394+285C>A MANE Select | ENSP00000264595.2:n.394+285C>A | |
| ENST00000264595.6:c.394+285C>A | ENSP00000264595.2:n.394+285C>A | |
| ENST00000502310.5:c.49+285C>A | ENSP00000423798.1:n.49+285C>A | |
| ENST00000506853.5:n.428+285C>A | ||
| ENST00000510635.1:c.90+285C>A | ||
| ENST00000510955.5:n.316-434C>A | ||
| NM_000027.3:c.394+285C>A | NP_000018.2:n.394+285C>A | |
| NM_001171988.1:c.394+285C>A | NP_001165459.1:n.394+285C>A | |
| NR_033655.1:n.522+285C>A | ||
| XM_006714123.2:c.394+285C>A | XP_006714186.1:n.394+285C>A | |
| XR_001741155.2:n.488+285C>A | ||
| NM_000027.4:c.394+285C>A MANE Select | NP_000018.2:n.394+285C>A | |
| NM_001171988.2:c.394+285C>A | NP_001165459.1:n.394+285C>A | |
| NR_033655.2:n.456+285C>A |