Linked Data
ClinVar Variation Id:
1978331
ClinVar RCV Id:
RCV002750959
dbSNP Id:
rs781409507
ExAC:
16:58572065 C / T
gnomAD v2:
16-58572065-C-T
gnomAD v3:
16-58538161-C-T
gnomAD v4:
16-58538161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58538161C>T , CM000678.2:g.58538161C>T | GRCh38 |
| NC_000016.9:g.58572065C>T , CM000678.1:g.58572065C>T | GRCh37 |
| NC_000016.8:g.57129566C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.5241G>A MANE Select | ENSP00000320949.5:p.Ala1747= | |
| ENST00000317147.9:c.5241G>A | ENSP00000320949.5:p.Ala1747= | |
| ENST00000563283.1:n.548G>A | ||
| ENST00000567188.5:c.5226G>A | ENSP00000456649.1:p.Ala1742= | |
| ENST00000568917.1:c.360G>A | ENSP00000454611.1:p.Ala120= | |
| ENST00000569240.5:c.5226G>A | ENSP00000455635.1:p.Ala1742= | |
| NM_001265612.1:c.5226G>A | NP_001252541.1:p.Ala1742= | |
| NM_016284.4:c.5241G>A | NP_057368.3:p.Ala1747= | |
| NR_049763.1:n.5559G>A | ||
| NM_016284.5:c.5241G>A MANE Select | NP_057368.3:p.Ala1747= | |
| NM_001265612.2:c.5226G>A | NP_001252541.1:p.Ala1742= | |
| NR_049763.2:n.5499G>A |