Linked Data
ClinVar Variation Id:
392916
dbSNP Id:
rs771551765
ExAC:
8:94827616 G / A
gnomAD v2:
8-94827616-G-A
gnomAD v3:
8-93815388-G-A
gnomAD v4:
8-93815388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93815388G>A , CM000670.2:g.93815388G>A | GRCh38 |
| NC_000008.10:g.94827616G>A , CM000670.1:g.94827616G>A | GRCh37 |
| NC_000008.9:g.94896792G>A | NCBI36 |
| NG_009190.1:g.65545G>A , LRG_688:g.65545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2848G>A | ENSP00000314488.4:p.Val950Met | |
| ENST00000409623.8:c.2803G>A | ENSP00000386966.4:p.Val935Met | |
| ENST00000452276.6:c.2731G>A | ENSP00000388671.2:p.Val911Met | |
| ENST00000453906.6:c.1966G>A | ENSP00000403035.2:p.Val656Met | |
| ENST00000518896.2:c.1139G>A | ENSP00000507992.1:n.1139G>A | |
| ENST00000520680.2:c.2971G>A | ENSP00000428785.2:p.Val991Met | |
| ENST00000521517.6:c.2749G>A | ENSP00000430740.2:p.Val917Met | |
| ENST00000681998.1:c.2669G>A | ENSP00000506773.1:n.2669G>A | |
| ENST00000682036.1:c.2089G>A | ENSP00000508390.1:p.Val697Met | |
| ENST00000682577.1:c.2621G>A | ENSP00000506963.1:n.2621G>A | |
| ENST00000682624.1:c.*2422G>A | ENSP00000508343.1:n.*2422G>A | |
| ENST00000682700.1:c.2979G>A | ENSP00000507627.1:n.2979G>A | |
| ENST00000682744.1:n.2283G>A | ||
| ENST00000682804.1:n.2671G>A | ||
| ENST00000682837.1:c.2337G>A | ENSP00000507920.1:n.2337G>A | |
| ENST00000682935.1:n.4898G>A | ||
| ENST00000682984.1:c.2509G>A | ENSP00000507209.1:p.Val837Met | |
| ENST00000683078.1:c.2603G>A | ENSP00000506796.1:n.2603G>A | |
| ENST00000683223.1:c.2774G>A | ENSP00000507685.1:n.2774G>A | |
| ENST00000683238.1:n.4072G>A | ||
| ENST00000683249.1:n.4445G>A | ||
| ENST00000683336.1:c.2566G>A | ENSP00000507695.1:n.2566G>A | |
| ENST00000683362.1:c.2509G>A | ENSP00000506985.1:p.Val837Met | |
| ENST00000683919.1:c.2778G>A | ENSP00000507617.1:n.2778G>A | |
| ENST00000683953.1:c.2759G>A | ENSP00000508375.1:n.2759G>A | |
| ENST00000684023.1:c.3019G>A | ENSP00000507461.1:n.3019G>A | |
| ENST00000684064.1:c.2539G>A | ENSP00000508192.1:p.Val847Met | |
| ENST00000684089.1:n.4398G>A | ||
| ENST00000684149.1:c.*2027G>A | ENSP00000507943.1:n.*2027G>A | |
| ENST00000684343.1:c.1045G>A | ENSP00000507591.1:p.Val349Met | |
| ENST00000684416.1:n.2807G>A | ||
| ENST00000684540.1:c.2972G>A | ENSP00000507987.1:n.2972G>A | |
| ENST00000453321.8:c.2848G>A MANE Select | ENSP00000389998.3:p.Val950Met | |
| ENST00000323130.7:c.2818G>A | ENSP00000314488.3:p.Val940Met | |
| ENST00000409623.7:c.2605G>A | ENSP00000386966.3:p.Val869Met | |
| ENST00000453321.7:c.2848G>A | ENSP00000389998.3:p.Val950Met | |
| ENST00000518896.1:n.114G>A | ||
| ENST00000519845.5:n.1580G>A | ||
| NM_001142301.1:c.2605G>A , LRG_688t2:c.2605G>A | NP_001135773.1:p.Val869Met | |
| NM_153704.5:c.2848G>A , LRG_688t1:c.2848G>A | NP_714915.3:p.Val950Met | |
| NR_024522.1:n.2919G>A | ||
| XM_006716686.2:c.2545G>A | XP_006716749.1:p.Val849Met | |
| XM_006716687.2:c.2248G>A | XP_006716750.1:p.Val750Met | |
| XM_011517363.1:c.1966G>A | XP_011515665.1:p.Val656Met | |
| XR_428387.1:n.2906G>A | ||
| XR_928360.1:n.2906G>A | ||
| XR_928361.1:n.2906G>A | ||
| XR_928362.1:n.3100G>A | ||
| XM_006716686.4:c.2545G>A | XP_006716749.1:p.Val849Met | |
| XM_011517363.3:c.1966G>A | XP_011515665.1:p.Val656Met | |
| XM_024447326.1:c.2194G>A | XP_024303094.1:p.Val732Met | |
| XR_001745619.2:n.2889G>A | ||
| XR_428387.2:n.2889G>A | ||
| XR_928360.3:n.2889G>A | ||
| XR_928362.3:n.3083G>A | ||
| NM_153704.6:c.2848G>A MANE Select | NP_714915.3:p.Val950Met | |
| NR_024522.2:n.2869G>A |