Linked Data
ClinVar Variation Id:
2521948
ClinVar RCV Id:
RCV004293071
dbSNP Id:
rs375915731
ExAC:
3:126160705 C / T
gnomAD v2:
3-126160705-C-T
gnomAD v3:
3-126441862-C-T
gnomAD v4:
3-126441862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126441862C>T , CM000665.2:g.126441862C>T | GRCh38 |
| NC_000003.11:g.126160705C>T , CM000665.1:g.126160705C>T | GRCh37 |
| NC_000003.10:g.127643395C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389709.8:c.2297G>A MANE Select | ENSP00000374359.3:p.Cys766Tyr | |
| ENST00000389709.7:c.2297G>A | ENSP00000374359.3:p.Cys766Tyr | |
| ENST00000514463.1:n.1548G>A | ||
| ENST00000515545.5:c.1599G>A | ||
| NM_025112.4:c.2297G>A | NP_079388.3:p.Cys766Tyr | |
| NR_104249.1:n.2531G>A | ||
| XM_005247757.2:c.2213-2135G>A | XP_005247814.1:n.2213-2135G>A | |
| XM_006713741.1:c.2128-2135G>A | XP_006713804.1:n.2128-2135G>A | |
| XM_011513119.1:c.2126G>A | XP_011511421.1:p.Cys709Tyr | |
| XR_924169.1:n.2276G>A | ||
| XM_005247757.3:c.2213-2135G>A | XP_005247814.1:n.2213-2135G>A | |
| XM_006713741.2:c.2128-2135G>A | XP_006713804.1:n.2128-2135G>A | |
| XM_011513119.2:c.2126G>A | XP_011511421.1:p.Cys709Tyr | |
| XR_924169.2:n.2277G>A | ||
| NM_025112.5:c.2297G>A MANE Select | NP_079388.3:p.Cys766Tyr | |
| NR_104249.2:n.2503G>A |