Linked Data
ClinVar Variation Id:
228282
dbSNP Id:
rs876657655
gnomAD v4:
11-77211162-A-G
PubMed:
PMID:21436283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211162A>G , CM000673.2:g.77211162A>G | GRCh38 |
| NC_000011.9:g.76922207A>G , CM000673.1:g.76922207A>G | GRCh37 |
| NC_000011.8:g.76599855A>G | NCBI36 |
| NG_009086.1:g.87898A>G | |
| NG_009086.2:g.87917A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6062A>G MANE Select | ENSP00000386331.3:p.Lys2021Arg | |
| ENST00000670577.1:c.3863A>G | ||
| ENST00000409619.6:c.5915A>G | ENSP00000386635.2:p.Lys1972Arg | |
| ENST00000409709.7:c.6062A>G | ENSP00000386331.3:p.Lys2021Arg | |
| ENST00000458169.2:c.3488A>G | ENSP00000417017.2:p.Lys1163Arg | |
| ENST00000458637.6:c.5948A>G | ENSP00000392185.2:p.Lys1983Arg | |
| ENST00000481328.7:n.3598A>G | ||
| ENST00000526863.2:n.25+251A>G | ||
| ENST00000605744.1:n.1529A>G | ||
| NM_000260.3:c.6062A>G | NP_000251.3:p.Lys2021Arg | |
| NM_001127180.1:c.5948A>G | NP_001120652.1:p.Lys1983Arg | |
| XM_005274012.2:c.5945A>G | XP_005274069.1:p.Lys1982Arg | |
| XM_006718558.2:c.6053A>G | XP_006718621.1:p.Lys2018Arg | |
| XM_006718559.2:c.5948A>G | XP_006718622.1:p.Lys1983Arg | |
| XM_006718560.2:c.5945A>G | XP_006718623.1:p.Lys1982Arg | |
| XM_006718561.2:c.5948A>G | XP_006718624.1:p.Lys1983Arg | |
| XM_011545044.1:c.6062A>G | XP_011543346.1:p.Lys2021Arg | |
| XM_011545045.1:c.6056A>G | XP_011543347.1:p.Lys2019Arg | |
| XM_011545046.1:c.6029A>G | XP_011543348.1:p.Lys2010Arg | |
| XM_011545047.1:c.5966A>G | XP_011543349.1:p.Lys1989Arg | |
| XM_011545048.1:c.5837A>G | XP_011543350.1:p.Lys1946Arg | |
| XM_011545049.1:c.5825A>G | XP_011543351.1:p.Lys1942Arg | |
| XM_011545050.1:c.5798A>G | XP_011543352.1:p.Lys1933Arg | |
| XM_011545051.1:c.6062A>G | XP_011543353.1:p.Lys2021Arg | |
| XR_949938.1:n.6382A>G | ||
| XR_949941.1:n.6356A>G | ||
| XM_011545044.2:c.6062A>G | XP_011543346.1:p.Lys2021Arg | |
| XM_011545046.2:c.6152A>G | XP_011543348.2:p.Lys2051Arg | |
| XM_011545050.2:c.5798A>G | XP_011543352.1:p.Lys1933Arg | |
| XM_017017778.1:c.6146A>G | XP_016873267.1:p.Lys2049Arg | |
| XM_017017779.1:c.6143A>G | XP_016873268.1:p.Lys2048Arg | |
| XM_017017780.1:c.6152A>G | XP_016873269.1:p.Lys2051Arg | |
| XM_017017781.1:c.6056A>G | XP_016873270.1:p.Lys2019Arg | |
| XM_017017782.1:c.6038A>G | XP_016873271.1:p.Lys2013Arg | |
| XM_017017783.1:c.6035A>G | XP_016873272.1:p.Lys2012Arg | |
| XM_017017784.1:c.6035A>G | XP_016873273.1:p.Lys2012Arg | |
| XM_017017785.1:c.5915A>G | XP_016873274.1:p.Lys1972Arg | |
| XM_017017786.1:c.6152A>G | XP_016873275.1:p.Lys2051Arg | |
| XM_017017788.1:c.6038A>G | XP_016873277.1:p.Lys2013Arg | |
| XR_001747885.1:n.6141A>G | ||
| XR_001747886.1:n.6082A>G | ||
| XR_001747887.1:n.6127A>G | ||
| NM_000260.4:c.6062A>G MANE Select | NP_000251.3:p.Lys2021Arg | |
| NM_001127180.2:c.5948A>G | NP_001120652.1:p.Lys1983Arg | |
| NM_001369365.1:c.5915A>G | NP_001356294.1:p.Lys1972Arg |