Linked Data
ClinVar Variation Id:
926296
dbSNP Id:
rs368195514
ExAC:
2:215609828 A / G
gnomAD v2:
2-215609828-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745104A>G , CM000664.2:g.214745104A>G | GRCh38 |
| NC_000002.11:g.215609828A>G , CM000664.1:g.215609828A>G | GRCh37 |
| NC_000002.10:g.215318073A>G | NCBI36 |
| NG_012047.2:g.69601T>C | |
| NG_012047.3:g.69608T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1866T>C MANE Select | ENSP00000260947.4:p.Leu622= | |
| ENST00000421162.2:c.513T>C | ENSP00000392245.2:p.Leu171= | |
| ENST00000613192.2:c.159-14596T>C | ENSP00000483275.2:n.159-14596T>C | |
| ENST00000613374.5:c.456T>C | ENSP00000484464.1:p.Leu152= | |
| ENST00000613706.5:c.1458T>C | ENSP00000484976.2:p.Leu486= | |
| ENST00000617164.5:c.1809T>C | ENSP00000480470.1:p.Leu603= | |
| ENST00000619009.5:c.365-14596T>C | ENSP00000482293.1:n.365-14596T>C | |
| ENST00000650978.1:c.3241T>C | ||
| ENST00000260947.8:c.1866T>C | ENSP00000260947.4:p.Leu622= | |
| ENST00000421162.1:c.513T>C | ENSP00000392245.1:p.Leu171= | |
| ENST00000455743.5:c.*1486T>C | ENSP00000412186.1:n.*1486T>C | |
| ENST00000613192.1:c.74-14596T>C | ENSP00000483275.1:n.74-14596T>C | |
| ENST00000613374.4:c.456T>C | ENSP00000484464.1:p.Leu152= | |
| ENST00000613706.4:c.513T>C | ENSP00000484976.1:p.Leu171= | |
| ENST00000617164.4:c.1809T>C | ENSP00000480470.1:p.Leu603= | |
| ENST00000619009.4:c.365-14596T>C | ENSP00000482293.1:n.365-14596T>C | |
| ENST00000620057.4:c.*532T>C | ENSP00000481988.1:n.*532T>C | |
| NM_000465.3:c.1866T>C | NP_000456.2:p.Leu622= | |
| NM_001282543.1:c.1809T>C | NP_001269472.1:p.Leu603= | |
| NM_001282545.1:c.513T>C | NP_001269474.1:p.Leu171= | |
| NM_001282548.1:c.456T>C | NP_001269477.1:p.Leu152= | |
| NM_001282549.1:c.365-14596T>C | NP_001269478.1:n.365-14596T>C | |
| NR_104212.1:n.1859T>C | ||
| NR_104215.1:n.1802T>C | ||
| NR_104216.1:n.1058T>C | ||
| XM_011511567.1:c.1812T>C | XP_011509869.1:p.Leu604= | |
| XM_011511568.1:c.1866T>C | XP_011509870.1:p.Leu622= | |
| XM_017004613.1:c.1965T>C | XP_016860102.1:p.Leu655= | |
| XM_017004614.1:c.1965T>C | XP_016860103.1:p.Leu655= | |
| XR_002959322.1:n.2056T>C | ||
| NM_000465.4:c.1866T>C MANE Select | NP_000456.2:p.Leu622= | |
| NM_001282543.2:c.1809T>C | NP_001269472.1:p.Leu603= | |
| NM_001282545.2:c.513T>C | NP_001269474.1:p.Leu171= | |
| NM_001282548.2:c.456T>C | NP_001269477.1:p.Leu152= | |
| NM_001282549.2:c.365-14596T>C | NP_001269478.1:n.365-14596T>C | |
| NR_104212.2:n.1831T>C | ||
| NR_104215.2:n.1774T>C | ||
| NR_104216.2:n.1030T>C |