Linked Data
ClinVar Variation Id:
93396
dbSNP Id:
rs141633456
ExAC:
12:2693724 G / A
gnomAD v2:
12-2693724-G-A
gnomAD v3:
12-2584558-G-A
gnomAD v4:
12-2584558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.2584558G>A , CM000674.2:g.2584558G>A | GRCh38 |
| NC_000012.11:g.2693724G>A , CM000674.1:g.2693724G>A | GRCh37 |
| NC_000012.10:g.2563985G>A | NCBI36 |
| NG_008801.2:g.618773G>A , LRG_334:g.618773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335762.10:c.2355G>A | ENSP00000336982.5:p.Glu785= | |
| ENST00000399617.6:c.2280G>A | ENSP00000382526.1:p.Glu760= | |
| ENST00000399634.6:c.2280G>A | ENSP00000382542.2:p.Glu760= | |
| ENST00000406454.8:c.2280G>A | ENSP00000385896.3:p.Glu760= | |
| ENST00000465278.3:c.772G>A | ||
| ENST00000682336.1:c.2355G>A | ENSP00000507898.1:p.Glu785= | |
| ENST00000682462.1:c.2370G>A | ENSP00000507105.1:p.Glu790= | |
| ENST00000682544.1:c.2370G>A | ENSP00000507184.1:p.Glu790= | |
| ENST00000682686.1:c.2280G>A | ENSP00000507309.1:p.Glu760= | |
| ENST00000682835.1:c.2280G>A | ENSP00000507282.1:p.Glu760= | |
| ENST00000683482.1:c.2271G>A | ENSP00000507169.1:p.Glu757= | |
| ENST00000683781.1:c.2370G>A | ENSP00000507434.1:p.Glu790= | |
| ENST00000683824.1:c.2445G>A | ENSP00000507867.1:p.Glu815= | |
| ENST00000683840.1:c.2370G>A | ENSP00000507612.1:p.Glu790= | |
| ENST00000683956.1:c.2370G>A | ENSP00000506882.1:p.Glu790= | |
| ENST00000327702.12:c.2280G>A | ENSP00000329877.7:p.Glu760= | |
| ENST00000347598.9:c.2280G>A | ENSP00000266376.6:p.Glu760= | |
| ENST00000399603.6:c.2280G>A MANE Plus Clinical | ENSP00000382512.1:p.Glu760= | |
| ENST00000399641.6:c.2280G>A | ENSP00000382549.1:p.Glu760= | |
| ENST00000399655.6:c.2280G>A MANE Select | ENSP00000382563.1:p.Glu760= | |
| ENST00000480911.6:c.*887G>A | ENSP00000437936.2:n.*887G>A | |
| ENST00000672806.1:c.*1900G>A | ENSP00000500218.1:n.*1900G>A | |
| ENST00000327702.11:c.2280G>A | ENSP00000329877.7:p.Glu760= | |
| ENST00000335762.9:c.2355G>A | ENSP00000336982.5:p.Glu785= | |
| ENST00000344100.7:c.2280G>A | ENSP00000341092.3:p.Glu760= | |
| ENST00000347598.8:c.2280G>A | ENSP00000266376.6:p.Glu760= | |
| ENST00000399591.5:c.2280G>A | ENSP00000382500.1:p.Glu760= | |
| ENST00000399595.5:c.2280G>A | ENSP00000382504.1:p.Glu760= | |
| ENST00000399597.5:c.2280G>A | ENSP00000382506.1:p.Glu760= | |
| ENST00000399601.5:c.2280G>A | ENSP00000382510.1:p.Glu760= | |
| ENST00000399603.5:c.2280G>A | ENSP00000382512.1:p.Glu760= | |
| ENST00000399606.5:c.2280G>A | ENSP00000382515.1:p.Glu760= | |
| ENST00000399617.5:c.2280G>A | ENSP00000382526.1:p.Glu760= | |
| ENST00000399621.5:c.2280G>A | ENSP00000382530.1:p.Glu760= | |
| ENST00000399629.5:c.2280G>A | ENSP00000382537.1:p.Glu760= | |
| ENST00000399634.5:c.2280G>A | ENSP00000382542.1:p.Glu760= | |
| ENST00000399637.5:c.2280G>A | ENSP00000382546.1:p.Glu760= | |
| ENST00000399638.5:c.2280G>A | ENSP00000382547.1:p.Glu760= | |
| ENST00000399641.5:c.2280G>A | ENSP00000382549.1:p.Glu760= | |
| ENST00000399644.5:c.2280G>A | ENSP00000382552.1:p.Glu760= | |
| ENST00000399649.5:c.2280G>A | ENSP00000382557.1:p.Glu760= | |
| ENST00000399655.5:c.2280G>A | ENSP00000382563.1:p.Glu760= | |
| ENST00000402845.7:c.2280G>A | ENSP00000385724.3:p.Glu760= | |
| ENST00000406454.7:c.2280G>A | ENSP00000385896.3:p.Glu760= | |
| ENST00000465278.2:c.115G>A | ||
| ENST00000480911.5:c.2280G>A | ENSP00000437936.1:p.Glu760= | |
| ENST00000613940.4:c.1803G>A | ENSP00000483335.1:p.Glu601= | |
| ENST00000615303.4:c.1803G>A | ENSP00000480922.1:p.Glu601= | |
| ENST00000615400.4:c.1803G>A | ENSP00000480292.1:p.Glu601= | |
| ENST00000620878.4:c.1803G>A | ENSP00000479029.1:p.Glu601= | |
| ENST00000621625.4:c.1803G>A | ENSP00000484796.1:p.Glu601= | |
| NM_000719.6:c.2280G>A , LRG_334t1:c.2280G>A | NP_000710.5:p.Glu760= | |
| NM_001129827.1:c.2280G>A , LRG_334t2:c.2280G>A | NP_001123299.1:p.Glu760= | |
| NM_001129829.1:c.2280G>A | NP_001123301.1:p.Glu760= | |
| NM_001129830.2:c.2280G>A | NP_001123302.2:p.Glu760= | |
| NM_001129831.1:c.2280G>A | NP_001123303.1:p.Glu760= | |
| NM_001129832.1:c.2280G>A | NP_001123304.1:p.Glu760= | |
| NM_001129833.1:c.2280G>A | NP_001123305.1:p.Glu760= | |
| NM_001129834.1:c.2280G>A | NP_001123306.1:p.Glu760= | |
| NM_001129835.1:c.2280G>A | NP_001123307.1:p.Glu760= | |
| NM_001129836.1:c.2280G>A | NP_001123308.1:p.Glu760= | |
| NM_001129837.1:c.2280G>A | NP_001123309.1:p.Glu760= | |
| NM_001129838.1:c.2280G>A | NP_001123310.1:p.Glu760= | |
| NM_001129839.1:c.2280G>A | NP_001123311.1:p.Glu760= | |
| NM_001129840.1:c.2280G>A , LRG_334t4:c.2280G>A | NP_001123312.1:p.Glu760= | |
| NM_001129841.1:c.2280G>A | NP_001123313.1:p.Glu760= | |
| NM_001129842.1:c.2280G>A | NP_001123314.1:p.Glu760= | |
| NM_001129843.1:c.2280G>A | NP_001123315.1:p.Glu760= | |
| NM_001129844.1:c.2271G>A | NP_001123316.1:p.Glu757= | |
| NM_001129846.1:c.2280G>A | NP_001123318.1:p.Glu760= | |
| NM_001167623.1:c.2280G>A | NP_001161095.1:p.Glu760= | |
| NM_001167624.2:c.2280G>A | NP_001161096.2:p.Glu760= | |
| NM_001167625.1:c.2280G>A | NP_001161097.1:p.Glu760= | |
| NM_199460.3:c.2280G>A | NP_955630.3:p.Glu760= | |
| XM_006719017.1:c.2370G>A | XP_006719080.1:p.Glu790= | |
| XM_011521017.1:c.1440G>A | XP_011519319.1:p.Glu480= | |
| XM_011521018.1:c.885G>A | XP_011519320.1:p.Glu295= | |
| XM_011521020.1:c.2445G>A | XP_011519322.1:p.Glu815= | |
| XM_011521021.1:c.2280G>A | XP_011519323.1:p.Glu760= | |
| XM_011521022.1:c.2280G>A | XP_011519324.1:p.Glu760= | |
| XM_011521023.1:c.2355G>A | XP_011519325.1:p.Glu785= | |
| XM_006719017.2:c.2370G>A | XP_006719080.1:p.Glu790= | |
| XM_011521020.2:c.2445G>A | XP_011519322.1:p.Glu815= | |
| XM_011521023.3:c.2355G>A | XP_011519325.1:p.Glu785= | |
| XM_017019926.2:c.2643G>A | XP_016875415.1:p.Glu881= | |
| XM_017019927.2:c.2643G>A | XP_016875416.1:p.Glu881= | |
| XM_017019928.2:c.2643G>A | XP_016875417.1:p.Glu881= | |
| XM_017019929.2:c.2643G>A | XP_016875418.1:p.Glu881= | |
| XM_017019930.2:c.2643G>A | XP_016875419.1:p.Glu881= | |
| XM_017019931.2:c.2643G>A | XP_016875420.1:p.Glu881= | |
| XM_017019932.2:c.2448G>A | XP_016875421.1:p.Glu816= | |
| XM_017019933.2:c.2448G>A | XP_016875422.1:p.Glu816= | |
| XM_017019934.2:c.2523G>A | XP_016875423.1:p.Glu841= | |
| XM_017019935.2:c.2523G>A | XP_016875424.1:p.Glu841= | |
| XM_017019936.2:c.2448G>A | XP_016875425.1:p.Glu816= | |
| XM_017019937.2:c.2448G>A | XP_016875426.1:p.Glu816= | |
| XM_017019938.2:c.2448G>A | XP_016875427.1:p.Glu816= | |
| XM_017019939.2:c.2448G>A | XP_016875428.1:p.Glu816= | |
| XM_017019940.2:c.2448G>A | XP_016875429.1:p.Glu816= | |
| XM_017019941.2:c.2448G>A | XP_016875430.1:p.Glu816= | |
| XM_017019942.2:c.2448G>A | XP_016875431.1:p.Glu816= | |
| XM_017019943.2:c.2448G>A | XP_016875432.1:p.Glu816= | |
| XM_017019944.2:c.2448G>A | XP_016875433.1:p.Glu816= | |
| XM_017019945.2:c.2448G>A | XP_016875434.1:p.Glu816= | |
| XM_017019946.2:c.2448G>A | XP_016875435.1:p.Glu816= | |
| XM_017019947.2:c.2448G>A | XP_016875436.1:p.Glu816= | |
| XM_017019948.2:c.2448G>A | XP_016875437.1:p.Glu816= | |
| XM_017019949.2:c.2448G>A | XP_016875438.1:p.Glu816= | |
| XM_017019950.2:c.2448G>A | XP_016875439.1:p.Glu816= | |
| XM_017019951.2:c.2439G>A | XP_016875440.1:p.Glu813= | |
| XM_017019952.2:c.2448G>A | XP_016875441.1:p.Glu816= | |
| XM_017019953.1:c.2370G>A | XP_016875442.1:p.Glu790= | |
| XM_017019954.1:c.2370G>A | XP_016875443.1:p.Glu790= | |
| XM_017019955.2:c.2523G>A | XP_016875444.1:p.Glu841= | |
| NM_000719.7:c.2280G>A MANE Select | NP_000710.5:p.Glu760= | |
| NM_001129827.2:c.2280G>A | NP_001123299.1:p.Glu760= | |
| NM_001129830.3:c.2280G>A | NP_001123302.2:p.Glu760= | |
| NM_001129840.2:c.2280G>A | NP_001123312.1:p.Glu760= | |
| NM_001167623.2:c.2280G>A MANE Plus Clinical | NP_001161095.1:p.Glu760= | |
| NM_001129829.2:c.2280G>A | NP_001123301.1:p.Glu760= | |
| NM_001129831.2:c.2280G>A | NP_001123303.1:p.Glu760= | |
| NM_001129832.2:c.2280G>A | NP_001123304.1:p.Glu760= | |
| NM_001129833.2:c.2280G>A | NP_001123305.1:p.Glu760= | |
| NM_001129834.2:c.2280G>A | NP_001123306.1:p.Glu760= | |
| NM_001129835.2:c.2280G>A | NP_001123307.1:p.Glu760= | |
| NM_001129836.2:c.2280G>A | NP_001123308.1:p.Glu760= | |
| NM_001129837.2:c.2280G>A | NP_001123309.1:p.Glu760= | |
| NM_001129838.2:c.2280G>A | NP_001123310.1:p.Glu760= | |
| NM_001129839.2:c.2280G>A | NP_001123311.1:p.Glu760= | |
| NM_001129841.2:c.2280G>A | NP_001123313.1:p.Glu760= | |
| NM_001129842.2:c.2280G>A | NP_001123314.1:p.Glu760= | |
| NM_001129843.2:c.2280G>A | NP_001123315.1:p.Glu760= | |
| NM_001129844.2:c.2271G>A | NP_001123316.1:p.Glu757= | |
| NM_001129846.2:c.2280G>A | NP_001123318.1:p.Glu760= | |
| NM_001167624.3:c.2280G>A | NP_001161096.2:p.Glu760= | |
| NM_001167625.2:c.2280G>A | NP_001161097.1:p.Glu760= | |
| NM_199460.4:c.2280G>A | NP_955630.3:p.Glu760= |