Linked Data
ClinVar Variation Id:
3586
ClinVar RCV Id:
RCV000003769
RCV000077895
RCV001526621
RCV002274875
RCV002227014
RCV002512722
RCV002251863
RCV003430631
dbSNP Id:
rs77931234
ExAC:
1:76226846 A / G
gnomAD v2:
1-76226846-A-G
gnomAD v3:
1-75761161-A-G
gnomAD v4:
1-75761161-A-G
PubMed:
PMID:1361190
PMID:1447668
PMID:1570195
PMID:1601002
PMID:1671131
PMID:1678810
PMID:1679031
PMID:1684086
PMID:1756601
PMID:1902818
PMID:1972503
PMID:2046713
PMID:2251268
PMID:2393404
PMID:2394825
PMID:3786030
PMID:7652482
PMID:7720752
PMID:7730333
PMID:7904584
PMID:8104486
PMID:8682492
PMID:8770876
PMID:9797589
PMID:11263545
PMID:11346377
PMID:11349232
PMID:11486912
PMID:15832312
PMID:18241067
PMID:19224950
PMID:19780764
PMID:20036593
PMID:20301597
PMID:20333879
PMID:21228398
PMID:22975760
PMID:23028790
PMID:23509891
PMID:23574375
PMID:23757202
PMID:23842438
PMID:24082139
PMID:24623196
PMID:24718418
PMID:24799540
PMID:24966162
PMID:24998633
PMID:25087612
PMID:25333063
PMID:25763512
PMID:26215884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761161A>G , CM000663.2:g.75761161A>G | GRCh38 |
| NC_000001.10:g.76226846A>G , CM000663.1:g.76226846A>G | GRCh37 |
| NC_000001.9:g.75999434A>G | NCBI36 |
| NG_007045.2:g.41804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.985A>G MANE Select | ENSP00000359878.5:p.Lys329Glu | |
| ENST00000473018.3:n.3109A>G | ||
| ENST00000532207.6:n.1996A>G | ||
| ENST00000541113.6:c.889A>G | ENSP00000442324.2:p.Lys297Glu | |
| ENST00000679509.1:n.1947A>G | ||
| ENST00000679530.1:c.*753A>G | ENSP00000506454.1:n.*753A>G | |
| ENST00000679615.1:n.3000A>G | ||
| ENST00000679687.1:c.547A>G | ENSP00000506598.1:p.Lys183Glu | |
| ENST00000679704.1:c.*751A>G | ENSP00000505117.1:n.*751A>G | |
| ENST00000679709.1:c.*948A>G | ENSP00000506623.1:n.*948A>G | |
| ENST00000679976.1:c.*569A>G | ENSP00000505565.1:n.*569A>G | |
| ENST00000680166.1:n.4274A>G | ||
| ENST00000680315.1:n.868A>G | ||
| ENST00000680517.1:c.*373A>G | ENSP00000505803.1:n.*373A>G | |
| ENST00000680582.1:n.1947A>G | ||
| ENST00000680613.1:c.*478A>G | ENSP00000506114.1:n.*478A>G | |
| ENST00000680662.1:c.*899A>G | ENSP00000505080.1:n.*899A>G | |
| ENST00000680691.1:c.*648A>G | ENSP00000506487.1:n.*648A>G | |
| ENST00000680694.1:c.*573A>G | ENSP00000505658.1:n.*573A>G | |
| ENST00000680743.1:c.*774A>G | ENSP00000505073.1:n.*774A>G | |
| ENST00000680749.1:c.*270A>G | ENSP00000505122.1:n.*270A>G | |
| ENST00000680798.1:c.*460A>G | ENSP00000505670.1:n.*460A>G | |
| ENST00000680805.1:c.844A>G | ENSP00000505447.1:p.Lys282Glu | |
| ENST00000680844.1:c.*769A>G | ENSP00000506541.1:n.*769A>G | |
| ENST00000680948.1:c.*852A>G | ENSP00000505441.1:n.*852A>G | |
| ENST00000680964.1:c.*78A>G | ENSP00000505961.1:n.*78A>G | |
| ENST00000681037.1:c.*2469A>G | ENSP00000506025.1:n.*2469A>G | |
| ENST00000681063.1:c.*254A>G | ENSP00000506616.1:n.*254A>G | |
| ENST00000681209.1:c.*640A>G | ENSP00000505877.1:n.*640A>G | |
| ENST00000681278.1:n.1687A>G | ||
| ENST00000681289.1:n.4980A>G | ||
| ENST00000681361.1:c.*652A>G | ENSP00000506679.1:n.*652A>G | |
| ENST00000681430.1:c.*78A>G | ENSP00000506301.1:n.*78A>G | |
| ENST00000681446.1:c.*689A>G | ENSP00000506244.1:n.*689A>G | |
| ENST00000681450.1:c.*656A>G | ENSP00000505660.1:n.*656A>G | |
| ENST00000681548.1:c.*571A>G | ENSP00000505275.1:n.*571A>G | |
| ENST00000681616.1:c.*644A>G | ENSP00000505111.1:n.*644A>G | |
| ENST00000681621.1:c.*569A>G | ENSP00000505770.1:n.*569A>G | |
| ENST00000681680.1:n.3080A>G | ||
| ENST00000681720.1:c.*440A>G | ENSP00000505438.1:n.*440A>G | |
| ENST00000681730.1:n.1207A>G | ||
| ENST00000681790.1:c.727A>G | ENSP00000505130.1:p.Lys243Glu | |
| ENST00000681837.1:n.1601A>G | ||
| ENST00000681913.1:n.3231A>G | ||
| ENST00000681916.1:c.*753A>G | ENSP00000506477.1:n.*753A>G | |
| ENST00000681930.1:n.3109A>G | ||
| ENST00000370834.9:c.1084A>G | ENSP00000359871.5:p.Lys362Glu | |
| ENST00000370841.8:c.985A>G | ENSP00000359878.4:p.Lys329Glu | |
| ENST00000420607.6:c.997A>G | ENSP00000409612.2:p.Lys333Glu | |
| ENST00000481374.1:n.258A>G | ||
| ENST00000525808.5:c.*571A>G | ENSP00000434823.1:n.*571A>G | |
| ENST00000526129.5:c.*769A>G | ENSP00000434092.1:n.*769A>G | |
| ENST00000526196.5:c.*753A>G | ENSP00000431953.1:n.*753A>G | |
| ENST00000528016.1:c.160-8016A>G | ENSP00000434284.1:n.160-8016A>G | |
| ENST00000529059.5:n.894A>G | ||
| ENST00000532207.5:n.715A>G | ||
| ENST00000534334.5:c.*726A>G | ENSP00000435584.1:n.*726A>G | |
| ENST00000541113.5:c.877A>G | ENSP00000442324.1:p.Lys293Glu | |
| NM_000016.5:c.985A>G | NP_000007.1:p.Lys329Glu | |
| NM_001127328.2:c.997A>G | NP_001120800.1:p.Lys333Glu | |
| NM_001286042.1:c.877A>G | NP_001272971.1:p.Lys293Glu | |
| NM_001286043.1:c.1084A>G | NP_001272972.1:p.Lys362Glu | |
| NM_001286044.1:c.418A>G | NP_001272973.1:p.Lys140Glu | |
| NM_000016.6:c.985A>G MANE Select | NP_000007.1:p.Lys329Glu | |
| NM_001127328.3:c.997A>G | NP_001120800.1:p.Lys333Glu | |
| NM_001286042.2:c.877A>G | NP_001272971.1:p.Lys293Glu | |
| NM_001286043.2:c.1084A>G | NP_001272972.1:p.Lys362Glu | |
| NM_001286044.2:c.418A>G | NP_001272973.1:p.Lys140Glu |