Linked Data
ClinVar Variation Id:
530474
dbSNP Id:
rs760127525
ExAC:
14:63447745 C / T
gnomAD v2:
14-63447745-C-T
gnomAD v4:
14-62981027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62981027C>T , CM000676.2:g.62981027C>T | GRCh38 |
| NC_000014.8:g.63447745C>T , CM000676.1:g.63447745C>T | GRCh37 |
| NC_000014.7:g.62517498C>T | NCBI36 |
| NG_034062.1:g.69212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322893.12:c.787G>A MANE Select | ENSP00000321427.7:p.Val263Ile | |
| ENST00000322893.11:c.787G>A | ENSP00000321427.7:p.Val263Ile | |
| ENST00000394964.3:n.952G>A | ||
| ENST00000394968.2:c.613G>A | ENSP00000378419.1:p.Val205Ile | |
| ENST00000420622.6:c.787G>A | ENSP00000395439.2:p.Val263Ile | |
| NM_139318.4:c.787G>A | NP_647479.2:p.Val263Ile | |
| NM_172375.2:c.787G>A | NP_758963.1:p.Val263Ile | |
| XM_011536658.1:c.787G>A | XP_011534960.1:p.Val263Ile | |
| NM_139318.5:c.787G>A MANE Select | NP_647479.2:p.Val263Ile | |
| NM_172375.3:c.787G>A | NP_758963.1:p.Val263Ile |