Linked Data
ClinVar Variation Id:
2644453
ClinVar RCV Id:
RCV003393555
dbSNP Id:
rs369187490
ExAC:
14:91739859 C / T
gnomAD v2:
14-91739859-C-T
gnomAD v3:
14-91273515-C-T
gnomAD v4:
14-91273515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273515C>T , CM000676.2:g.91273515C>T | GRCh38 |
| NC_000014.8:g.91739859C>T , CM000676.1:g.91739859C>T | GRCh37 |
| NC_000014.7:g.90809612C>T | NCBI36 |
| NG_033118.1:g.149330G>A | |
| NG_033118.2:g.149330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5197G>A MANE Select | ENSP00000374507.6:p.Val1733Ile | |
| ENST00000331194.8:c.769G>A | ENSP00000330332.8:p.Val257Ile | |
| ENST00000334448.5:n.1009G>A | ||
| ENST00000389857.10:c.5197G>A | ENSP00000374507.6:p.Val1733Ile | |
| ENST00000556726.5:c.1425G>A | ||
| NM_001080414.3:c.5197G>A | NP_001073883.2:p.Val1733Ile | |
| XM_011536796.1:c.5089G>A | XP_011535098.1:p.Val1697Ile | |
| XR_429316.2:n.5472G>A | ||
| XM_011536796.2:c.5089G>A | XP_011535098.1:p.Val1697Ile | |
| XM_017021336.1:c.2278G>A | XP_016876825.1:p.Val760Ile | |
| XR_429316.4:n.5470G>A | ||
| NM_001080414.4:c.5197G>A MANE Select | NP_001073883.2:p.Val1733Ile |