Linked Data
ClinVar Variation Id:
127730
dbSNP Id:
rs149262370
ExAC:
2:215593618 T / C
gnomAD v2:
2-215593618-T-C
gnomAD v3:
2-214728894-T-C
gnomAD v4:
2-214728894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728894T>C , CM000664.2:g.214728894T>C | GRCh38 |
| NC_000002.11:g.215593618T>C , CM000664.1:g.215593618T>C | GRCh37 |
| NC_000002.10:g.215301863T>C | NCBI36 |
| NG_012047.2:g.85811A>G | |
| NG_012047.3:g.85818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2116A>G MANE Select | ENSP00000260947.4:p.Lys706Glu | |
| ENST00000421162.2:c.763A>G | ENSP00000392245.2:p.Lys255Glu | |
| ENST00000613192.2:c.*179A>G | ENSP00000483275.2:n.*179A>G | |
| ENST00000613374.5:c.706A>G | ENSP00000484464.1:p.Lys236Glu | |
| ENST00000613706.5:c.1708A>G | ENSP00000484976.2:p.Lys570Glu | |
| ENST00000617164.5:c.2059A>G | ENSP00000480470.1:p.Lys687Glu | |
| ENST00000619009.5:c.577A>G | ENSP00000482293.1:p.Lys193Glu | |
| ENST00000650978.1:c.3491A>G | ||
| ENST00000260947.8:c.2116A>G | ENSP00000260947.4:p.Lys706Glu | |
| ENST00000432456.5:c.259A>G | ||
| ENST00000455743.5:c.*1736A>G | ENSP00000412186.1:n.*1736A>G | |
| ENST00000471590.5:n.451A>G | ||
| ENST00000613192.1:c.286A>G | ENSP00000483275.1:p.Lys96Glu | |
| ENST00000613374.4:c.706A>G | ENSP00000484464.1:p.Lys236Glu | |
| ENST00000613706.4:c.763A>G | ENSP00000484976.1:p.Lys255Glu | |
| ENST00000617164.4:c.2059A>G | ENSP00000480470.1:p.Lys687Glu | |
| ENST00000619009.4:c.577A>G | ENSP00000482293.1:p.Lys193Glu | |
| ENST00000620057.4:c.*782A>G | ENSP00000481988.1:n.*782A>G | |
| NM_000465.3:c.2116A>G | NP_000456.2:p.Lys706Glu | |
| NM_001282543.1:c.2059A>G | NP_001269472.1:p.Lys687Glu | |
| NM_001282545.1:c.763A>G | NP_001269474.1:p.Lys255Glu | |
| NM_001282548.1:c.706A>G | NP_001269477.1:p.Lys236Glu | |
| NM_001282549.1:c.577A>G | NP_001269478.1:p.Lys193Glu | |
| NR_104212.1:n.2109A>G | ||
| NR_104215.1:n.2052A>G | ||
| NR_104216.1:n.1308A>G | ||
| XM_011511567.1:c.2062A>G | XP_011509869.1:p.Lys688Glu | |
| XM_017004613.1:c.2215A>G | XP_016860102.1:p.Lys739Glu | |
| XR_002959322.1:n.2482A>G | ||
| NM_000465.4:c.2116A>G MANE Select | NP_000456.2:p.Lys706Glu | |
| NM_001282543.2:c.2059A>G | NP_001269472.1:p.Lys687Glu | |
| NM_001282545.2:c.763A>G | NP_001269474.1:p.Lys255Glu | |
| NM_001282548.2:c.706A>G | NP_001269477.1:p.Lys236Glu | |
| NM_001282549.2:c.577A>G | NP_001269478.1:p.Lys193Glu | |
| NR_104212.2:n.2081A>G | ||
| NR_104215.2:n.2024A>G | ||
| NR_104216.2:n.1280A>G |