Linked Data
ClinVar Variation Id:
803027
ClinVar RCV Id:
RCV000989224
dbSNP Id:
rs150483902
gnomAD v2:
14-51410946-G-T
gnomAD v3:
14-50944228-G-T
gnomAD v4:
14-50944228-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944228G>T , CM000676.2:g.50944228G>T | GRCh38 |
| NC_000014.8:g.51410946G>T , CM000676.1:g.51410946G>T | GRCh37 |
| NC_000014.7:g.50480696G>T | NCBI36 |
| NG_012796.1:g.5303C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.176C>A MANE Select | ENSP00000216392.7:p.Thr59Lys | |
| ENST00000216392.7:c.176C>A | ENSP00000216392.7:p.Thr59Lys | |
| ENST00000530336.2:n.243C>A | ||
| ENST00000532462.5:c.176C>A | ENSP00000431657.1:p.Thr59Lys | |
| ENST00000544180.6:c.176C>A | ENSP00000443787.1:p.Thr59Lys | |
| NM_001163940.1:c.176C>A | NP_001157412.1:p.Thr59Lys | |
| NM_002863.4:c.176C>A | NP_002854.3:p.Thr59Lys | |
| NM_002863.5:c.176C>A MANE Select | NP_002854.3:p.Thr59Lys | |
| NM_001163940.2:c.176C>A | NP_001157412.1:p.Thr59Lys |