Linked Data
ClinVar Variation Id:
1450701
ClinVar RCV Id:
RCV001992901
dbSNP Id:
rs183126428
gnomAD v3:
14-49628128-C-T
gnomAD v4:
14-49628128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49628128C>T , CM000676.2:g.49628128C>T | GRCh38 |
| NC_000014.8:g.50094846C>T , CM000676.1:g.50094846C>T | GRCh37 |
| NC_000014.7:g.49164596C>T | NCBI36 |
| NG_013070.1:g.12103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.1891G>A MANE Select | ENSP00000298292.8:p.Val631Ile | |
| ENST00000298292.12:c.1891G>A | ENSP00000298292.8:p.Val631Ile | |
| ENST00000406043.3:c.1864-2080G>A | ENSP00000384862.3:n.1864-2080G>A | |
| NM_001083908.1:c.1864-2080G>A | NP_001077377.1:n.1864-2080G>A | |
| NM_018139.2:c.1891G>A | NP_060609.2:p.Val631Ile | |
| NM_001083908.2:c.1864-2080G>A | NP_001077377.1:n.1864-2080G>A | |
| NM_001378453.1:c.-204-2080G>A | NP_001365382.1:n.-204-2080G>A | |
| NM_018139.3:c.1891G>A MANE Select | NP_060609.2:p.Val631Ile |