Linked Data
ClinVar Variation Id:
991814
ClinVar RCV Id:
RCV001280088
dbSNP Id:
rs757682828
ExAC:
14:24728359 T / C
gnomAD v2:
14-24728359-T-C
gnomAD v3:
14-24259153-T-C
gnomAD v4:
14-24259153-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259153T>C , CM000676.2:g.24259153T>C | GRCh38 |
| NC_000014.8:g.24728359T>C , CM000676.1:g.24728359T>C | GRCh37 |
| NC_000014.7:g.23798199T>C | NCBI36 |
| NG_007150.1:g.9014A>G | |
| NG_007150.2:g.9014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1081A>G MANE Select | ENSP00000206765.6:p.Ile361Val | |
| ENST00000206765.10:c.1081A>G | ENSP00000206765.6:p.Ile361Val | |
| ENST00000544573.5:c.-28-765A>G | ENSP00000439446.1:n.-28-765A>G | |
| ENST00000559136.1:c.154A>G | ENSP00000453337.1:p.Ile52Val | |
| NM_000359.2:c.1081A>G | NP_000350.1:p.Ile361Val | |
| NM_000359.3:c.1081A>G MANE Select | NP_000350.1:p.Ile361Val |