Linked Data
ClinVar Variation Id:
191518
ClinVar RCV Id:
RCV000171720
RCV000252240
RCV000267059
RCV000361700
RCV000999737
RCV001797656
RCV003982921
dbSNP Id:
rs61757671
ExAC:
7:91694604 G / A
gnomAD v2:
7-91694604-G-A
gnomAD v3:
7-92065290-G-A
gnomAD v4:
7-92065290-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92065290G>A , CM000669.2:g.92065290G>A | GRCh38 |
| NC_000007.13:g.91694604G>A , CM000669.1:g.91694604G>A | GRCh37 |
| NC_000007.12:g.91532540G>A | NCBI36 |
| NG_011623.1:g.129416G>A , LRG_331:g.129416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6037G>A MANE Select | ENSP00000348573.3:p.Glu2013Lys | |
| ENST00000359028.7:c.6133G>A | ENSP00000351922.4:p.Glu2045Lys | |
| ENST00000491695.2:c.682G>A | ENSP00000494626.2:p.Glu228Lys | |
| ENST00000674381.2:c.*5766G>A | ENSP00000501536.2:n.*5766G>A | |
| ENST00000679448.1:c.6037G>A | ENSP00000505889.1:p.Glu2013Lys | |
| ENST00000679457.1:c.6037G>A | ENSP00000505450.1:p.Glu2013Lys | |
| ENST00000679474.1:n.6259G>A | ||
| ENST00000679521.1:c.5983G>A | ENSP00000505456.1:p.Glu1995Lys | |
| ENST00000679554.1:c.*5822G>A | ENSP00000506415.1:n.*5822G>A | |
| ENST00000679722.1:n.6259G>A | ||
| ENST00000679821.1:c.5779G>A | ENSP00000506040.1:p.Glu1927Lys | |
| ENST00000680047.1:n.6259G>A | ||
| ENST00000680072.1:c.6037G>A | ENSP00000506581.1:p.Glu2013Lys | |
| ENST00000680074.1:n.9003G>A | ||
| ENST00000680181.1:c.5944G>A | ENSP00000505548.1:p.Glu1982Lys | |
| ENST00000680513.1:c.5896G>A | ENSP00000505284.1:p.Glu1966Lys | |
| ENST00000680534.1:c.6076G>A | ENSP00000506674.1:p.Glu2026Lys | |
| ENST00000680766.1:c.6037G>A | ENSP00000505204.1:p.Glu2013Lys | |
| ENST00000680952.1:c.6037G>A | ENSP00000506407.1:p.Glu2013Lys | |
| ENST00000681412.1:c.6037G>A | ENSP00000506486.1:p.Glu2013Lys | |
| ENST00000681722.1:c.6037G>A | ENSP00000506566.1:p.Glu2013Lys | |
| ENST00000356239.7:c.6037G>A | ENSP00000348573.3:p.Glu2013Lys | |
| ENST00000358100.6:c.5896G>A | ENSP00000350813.3:p.Glu1966Lys | |
| ENST00000359028.6:c.6070G>A | ENSP00000351922.3:p.Glu2024Lys | |
| ENST00000491695.1:n.1225G>A | ||
| NM_005751.4:c.6037G>A , LRG_331t1:c.6037G>A | NP_005742.4:p.Glu2013Lys | |
| NM_147185.2:c.6037G>A | NP_671714.1:p.Glu2013Lys | |
| XM_006715827.1:c.5896G>A | XP_006715890.1:p.Glu1966Lys | |
| XM_011515709.1:c.6208G>A | XP_011514011.1:p.Glu2070Lys | |
| XM_011515710.1:c.6208G>A | XP_011514012.1:p.Glu2070Lys | |
| XM_011515711.1:c.6172G>A | XP_011514013.1:p.Glu2058Lys | |
| XM_011515712.1:c.6169G>A | XP_011514014.1:p.Glu2057Lys | |
| XM_011515713.1:c.6154G>A | XP_011514015.1:p.Glu2052Lys | |
| XM_011515714.1:c.6169G>A | XP_011514016.1:p.Glu2057Lys | |
| XM_011515716.1:c.6112G>A | XP_011514018.1:p.Glu2038Lys | |
| XM_011515717.1:c.6067G>A | XP_011514019.1:p.Glu2023Lys | |
| XM_011515718.1:c.6073G>A | XP_011514020.1:p.Glu2025Lys | |
| XM_011515719.1:c.6073G>A | XP_011514021.1:p.Glu2025Lys | |
| XM_011515720.1:c.5932G>A | XP_011514022.1:p.Glu1978Lys | |
| XM_011515721.1:c.721G>A | XP_011514023.1:p.Glu241Lys | |
| XM_011515722.1:c.682G>A | XP_011514024.1:p.Glu228Lys | |
| XM_017011642.2:c.6172G>A | XP_016867131.1:p.Glu2058Lys | |
| XM_017011643.2:c.6133G>A | XP_016867132.1:p.Glu2045Lys | |
| XM_017011644.2:c.6172G>A | XP_016867133.1:p.Glu2058Lys | |
| XM_017011645.2:c.6118G>A | XP_016867134.1:p.Glu2040Lys | |
| XM_017011646.2:c.6133G>A | XP_016867135.1:p.Glu2045Lys | |
| XM_017011647.2:c.6079G>A | XP_016867136.1:p.Glu2027Lys | |
| XM_017011648.2:c.6076G>A | XP_016867137.1:p.Glu2026Lys | |
| XM_017011649.2:c.6133G>A | XP_016867138.1:p.Glu2045Lys | |
| XM_017011650.2:c.6037G>A | XP_016867139.1:p.Glu2013Lys | |
| XM_017011651.2:c.6031G>A | XP_016867140.1:p.Glu2011Lys | |
| XM_017011652.2:c.6172G>A | XP_016867141.1:p.Glu2058Lys | |
| XM_017011653.2:c.5944G>A | XP_016867142.1:p.Glu1982Lys | |
| XM_017011654.2:c.5896G>A | XP_016867143.1:p.Glu1966Lys | |
| XM_017011655.2:c.5800G>A | XP_016867144.1:p.Glu1934Lys | |
| XM_017011656.2:c.5800G>A | XP_016867145.1:p.Glu1934Lys | |
| XM_017011657.2:c.1837G>A | XP_016867146.1:p.Glu613Lys | |
| XM_017011658.2:c.721G>A | XP_016867147.1:p.Glu241Lys | |
| XM_017011659.2:c.682G>A | XP_016867148.1:p.Glu228Lys | |
| XM_017011660.2:c.682G>A | XP_016867149.1:p.Glu228Lys | |
| XM_024446631.1:c.5935G>A | XP_024302399.1:p.Glu1979Lys | |
| NM_147185.3:c.6037G>A | NP_671714.1:p.Glu2013Lys | |
| NM_001379277.1:c.682G>A | NP_001366206.1:p.Glu228Lys | |
| NM_005751.5:c.6037G>A MANE Select | NP_005742.4:p.Glu2013Lys |