Linked Data
ClinVar Variation Id:
630551
ClinVar RCV Id:
RCV000776388
dbSNP Id:
rs1559373888
gnomAD v4:
2-214730436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730436C>T , CM000664.2:g.214730436C>T | GRCh38 |
| NC_000002.11:g.215595160C>T , CM000664.1:g.215595160C>T | GRCh37 |
| NC_000002.10:g.215303405C>T | NCBI36 |
| NG_012047.2:g.84269G>A | |
| NG_012047.3:g.84276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1976G>A MANE Select | ENSP00000260947.4:p.Arg659Lys | |
| ENST00000421162.2:c.623G>A | ENSP00000392245.2:p.Arg208Lys | |
| ENST00000613192.2:c.*39G>A | ENSP00000483275.2:n.*39G>A | |
| ENST00000613374.5:c.566G>A | ENSP00000484464.1:p.Arg189Lys | |
| ENST00000613706.5:c.1568G>A | ENSP00000484976.2:p.Arg523Lys | |
| ENST00000617164.5:c.1919G>A | ENSP00000480470.1:p.Arg640Lys | |
| ENST00000619009.5:c.437G>A | ENSP00000482293.1:p.Arg146Lys | |
| ENST00000650978.1:c.3351G>A | ||
| ENST00000260947.8:c.1976G>A | ENSP00000260947.4:p.Arg659Lys | |
| ENST00000421162.1:c.623G>A | ENSP00000392245.1:p.Arg208Lys | |
| ENST00000432456.5:c.73G>A | ||
| ENST00000455743.5:c.*1596G>A | ENSP00000412186.1:n.*1596G>A | |
| ENST00000471590.5:n.311G>A | ||
| ENST00000613192.1:c.146G>A | ENSP00000483275.1:p.Arg49Lys | |
| ENST00000613374.4:c.566G>A | ENSP00000484464.1:p.Arg189Lys | |
| ENST00000613706.4:c.623G>A | ENSP00000484976.1:p.Arg208Lys | |
| ENST00000617164.4:c.1919G>A | ENSP00000480470.1:p.Arg640Lys | |
| ENST00000619009.4:c.437G>A | ENSP00000482293.1:p.Arg146Lys | |
| ENST00000620057.4:c.*642G>A | ENSP00000481988.1:n.*642G>A | |
| NM_000465.3:c.1976G>A | NP_000456.2:p.Arg659Lys | |
| NM_001282543.1:c.1919G>A | NP_001269472.1:p.Arg640Lys | |
| NM_001282545.1:c.623G>A | NP_001269474.1:p.Arg208Lys | |
| NM_001282548.1:c.566G>A | NP_001269477.1:p.Arg189Lys | |
| NM_001282549.1:c.437G>A | NP_001269478.1:p.Arg146Lys | |
| NR_104212.1:n.1969G>A | ||
| NR_104215.1:n.1912G>A | ||
| NR_104216.1:n.1168G>A | ||
| XM_011511567.1:c.1922G>A | XP_011509869.1:p.Arg641Lys | |
| XM_017004613.1:c.2075G>A | XP_016860102.1:p.Arg692Lys | |
| XR_002959322.1:n.2166G>A | ||
| NM_000465.4:c.1976G>A MANE Select | NP_000456.2:p.Arg659Lys | |
| NM_001282543.2:c.1919G>A | NP_001269472.1:p.Arg640Lys | |
| NM_001282545.2:c.623G>A | NP_001269474.1:p.Arg208Lys | |
| NM_001282548.2:c.566G>A | NP_001269477.1:p.Arg189Lys | |
| NM_001282549.2:c.437G>A | NP_001269478.1:p.Arg146Lys | |
| NR_104212.2:n.1941G>A | ||
| NR_104215.2:n.1884G>A | ||
| NR_104216.2:n.1140G>A |