Linked Data
ClinVar Variation Id:
217349
ClinVar RCV Id:
RCV000203400
dbSNP Id:
rs864309699
gnomAD v2:
1-16459750-A-C
gnomAD v4:
1-16133255-A-C
PubMed:
PMID:26694549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16133255A>C , CM000663.2:g.16133255A>C | GRCh38 |
| NC_000001.10:g.16459750A>C , CM000663.1:g.16459750A>C | GRCh37 |
| NC_000001.9:g.16332337A>C | NCBI36 |
| NG_021396.1:g.27833T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1978T>G MANE Select | ENSP00000351209.5:p.Phe660Val | |
| ENST00000358432.7:c.1978T>G | ENSP00000351209.5:p.Phe660Val | |
| ENST00000462805.1:n.196T>G | ||
| NM_004431.3:c.1978T>G | NP_004422.2:p.Phe660Val | |
| NM_001329090.1:c.1816T>G | NP_001316019.1:p.Phe606Val | |
| NM_004431.4:c.1978T>G | NP_004422.2:p.Phe660Val | |
| NM_004431.5:c.1978T>G MANE Select | NP_004422.2:p.Phe660Val | |
| NM_001329090.2:c.1816T>G | NP_001316019.1:p.Phe606Val |