Linked Data
ClinVar Variation Id:
532076
dbSNP Id:
rs142516364
ExAC:
3:57827086 G / A
gnomAD v2:
3-57827086-G-A
gnomAD v3:
3-57841359-G-A
gnomAD v4:
3-57841359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57841359G>A , CM000665.2:g.57841359G>A | GRCh38 |
| NC_000003.11:g.57827086G>A , CM000665.1:g.57827086G>A | GRCh37 |
| NC_000003.10:g.57802126G>A | NCBI36 |
| NG_042789.1:g.89104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417128.7:c.407G>A | ENSP00000412829.3:p.Arg136Gln | |
| ENST00000438794.6:c.407G>A | ENSP00000391886.2:p.Arg136Gln | |
| ENST00000465203.6:c.407G>A | ENSP00000419849.2:p.Arg136Gln | |
| ENST00000475055.2:c.407G>A | ENSP00000499520.2:p.Arg136Gln | |
| ENST00000670768.2:c.407G>A | ENSP00000499553.2:p.Arg136Gln | |
| ENST00000705628.1:c.407G>A | ENSP00000516144.1:p.Arg136Gln | |
| ENST00000705629.1:c.407G>A | ENSP00000516145.1:p.Arg136Gln | |
| ENST00000705630.1:c.407G>A | ENSP00000516146.1:p.Arg136Gln | |
| ENST00000705648.1:c.407G>A | ENSP00000516147.1:p.Arg136Gln | |
| ENST00000705649.1:c.407G>A | ENSP00000516148.1:p.Arg136Gln | |
| ENST00000705650.1:c.407G>A | ENSP00000516149.1:p.Arg136Gln | |
| ENST00000705651.1:c.407G>A | ENSP00000516150.1:p.Arg136Gln | |
| ENST00000705652.1:c.407G>A | ENSP00000516151.1:p.Arg136Gln | |
| ENST00000705653.1:c.413G>A | ENSP00000516152.1:p.Arg138Gln | |
| ENST00000705654.1:n.1964G>A | ||
| ENST00000428312.6:c.407G>A | ENSP00000398661.2:p.Arg136Gln | |
| ENST00000655012.1:c.407G>A | ENSP00000499412.1:p.Arg136Gln | |
| ENST00000657480.1:c.407G>A | ENSP00000499567.1:p.Arg136Gln | |
| ENST00000659705.1:c.407G>A | ENSP00000499241.1:p.Arg136Gln | |
| ENST00000659926.1:c.413G>A | ENSP00000499233.1:p.Arg138Gln | |
| ENST00000664084.1:c.*209G>A | ENSP00000499727.1:n.*209G>A | |
| ENST00000667800.1:c.407G>A | ENSP00000499603.1:p.Arg136Gln | |
| ENST00000671191.1:c.407G>A MANE Select | ENSP00000499458.1:p.Arg136Gln | |
| ENST00000295951.7:c.407G>A | ENSP00000295951.3:p.Arg136Gln | |
| ENST00000295952.7:c.407G>A | ENSP00000295952.3:p.Arg136Gln | |
| ENST00000383718.7:c.407G>A | ENSP00000373224.3:p.Arg136Gln | |
| ENST00000428312.5:c.407G>A | ENSP00000398661.1:p.Arg136Gln | |
| ENST00000449503.6:c.407G>A | ENSP00000412945.2:p.Arg136Gln | |
| ENST00000467901.1:n.758G>A | ||
| NM_001304420.1:c.407G>A | NP_001291349.1:p.Arg136Gln | |
| NM_001304420.2:c.407G>A | NP_001291349.1:p.Arg136Gln | |
| NM_001304421.1:c.407G>A | NP_001291350.1:p.Arg136Gln | |
| NM_001304421.2:c.407G>A | NP_001291350.1:p.Arg136Gln | |
| NM_007159.3:c.407G>A | NP_009090.2:p.Arg136Gln | |
| NM_007159.4:c.407G>A | NP_009090.2:p.Arg136Gln | |
| XM_005265456.3:c.413G>A | XP_005265513.1:p.Arg138Gln | |
| XM_005265457.3:c.407G>A | XP_005265514.1:p.Arg136Gln | |
| XM_005265458.3:c.413G>A | XP_005265515.1:p.Arg138Gln | |
| XM_005265459.3:c.413G>A | XP_005265516.1:p.Arg138Gln | |
| XM_005265460.3:c.413G>A | XP_005265517.1:p.Arg138Gln | |
| XM_005265461.3:c.407G>A | XP_005265518.1:p.Arg136Gln | |
| XM_005265462.3:c.413G>A | XP_005265519.1:p.Arg138Gln | |
| XM_005265464.3:c.407G>A | XP_005265521.1:p.Arg136Gln | |
| XM_005265465.3:c.413G>A | XP_005265522.1:p.Arg138Gln | |
| XM_005265466.3:c.407G>A | XP_005265523.1:p.Arg136Gln | |
| XM_005265467.3:c.413G>A | XP_005265524.1:p.Arg138Gln | |
| XM_005265468.3:c.413G>A | XP_005265525.1:p.Arg138Gln | |
| XM_005265470.3:c.413G>A | XP_005265527.1:p.Arg138Gln | |
| XM_005265471.3:c.407G>A | XP_005265528.1:p.Arg136Gln | |
| XM_005265472.3:c.413G>A | XP_005265529.1:p.Arg138Gln | |
| XM_006713326.2:c.407G>A | XP_006713389.1:p.Arg136Gln | |
| XM_011534103.1:c.413G>A | XP_011532405.1:p.Arg138Gln | |
| XM_011534104.1:c.413G>A | XP_011532406.1:p.Arg138Gln | |
| XM_011534105.1:c.413G>A | XP_011532407.1:p.Arg138Gln | |
| XR_427291.2:n.1639G>A | ||
| XR_427292.2:n.1639G>A | ||
| XR_940502.1:n.1639G>A | ||
| XM_005265456.4:c.413G>A | XP_005265513.1:p.Arg138Gln | |
| XM_005265457.4:c.407G>A | XP_005265514.1:p.Arg136Gln | |
| XM_005265458.4:c.413G>A | XP_005265515.1:p.Arg138Gln | |
| XM_005265459.4:c.413G>A | XP_005265516.1:p.Arg138Gln | |
| XM_005265460.4:c.413G>A | XP_005265517.1:p.Arg138Gln | |
| XM_005265461.4:c.407G>A | XP_005265518.1:p.Arg136Gln | |
| XM_005265462.4:c.413G>A | XP_005265519.1:p.Arg138Gln | |
| XM_005265464.4:c.407G>A | XP_005265521.1:p.Arg136Gln | |
| XM_005265465.4:c.413G>A | XP_005265522.1:p.Arg138Gln | |
| XM_005265466.4:c.407G>A | XP_005265523.1:p.Arg136Gln | |
| XM_005265467.4:c.413G>A | XP_005265524.1:p.Arg138Gln | |
| XM_005265468.4:c.413G>A | XP_005265525.1:p.Arg138Gln | |
| XM_005265470.4:c.413G>A | XP_005265527.1:p.Arg138Gln | |
| XM_005265471.4:c.407G>A | XP_005265528.1:p.Arg136Gln | |
| XM_005265472.4:c.413G>A | XP_005265529.1:p.Arg138Gln | |
| XM_006713326.3:c.407G>A | XP_006713389.1:p.Arg136Gln | |
| XM_011534103.2:c.413G>A | XP_011532405.1:p.Arg138Gln | |
| XM_011534104.2:c.413G>A | XP_011532406.1:p.Arg138Gln | |
| XM_011534105.2:c.413G>A | XP_011532407.1:p.Arg138Gln | |
| XM_017007146.2:c.407G>A | XP_016862635.1:p.Arg136Gln | |
| XM_017007147.2:c.407G>A | XP_016862636.1:p.Arg136Gln | |
| XM_017007148.2:c.413G>A | XP_016862637.1:p.Arg138Gln | |
| XM_017007149.2:c.407G>A | XP_016862638.1:p.Arg136Gln | |
| XM_017007150.2:c.407G>A | XP_016862639.1:p.Arg136Gln | |
| XM_017007151.2:c.413G>A | XP_016862640.1:p.Arg138Gln | |
| XM_017007152.2:c.407G>A | XP_016862641.1:p.Arg136Gln | |
| XM_017007153.2:c.407G>A | XP_016862642.1:p.Arg136Gln | |
| XM_017007154.2:c.407G>A | XP_016862643.1:p.Arg136Gln | |
| XM_017007155.2:c.407G>A | XP_016862644.1:p.Arg136Gln | |
| XM_017007156.2:c.413G>A | XP_016862645.1:p.Arg138Gln | |
| XM_017007157.2:c.407G>A | XP_016862646.1:p.Arg136Gln | |
| XM_017007158.2:c.413G>A | XP_016862647.1:p.Arg138Gln | |
| XM_017007159.2:c.413G>A | XP_016862648.1:p.Arg138Gln | |
| XM_017007160.2:c.407G>A | XP_016862649.1:p.Arg136Gln | |
| XM_017007161.2:c.407G>A | XP_016862650.1:p.Arg136Gln | |
| XM_017007162.2:c.413G>A | XP_016862651.1:p.Arg138Gln | |
| XM_017007163.2:c.407G>A | XP_016862652.1:p.Arg136Gln | |
| XM_017007164.2:c.407G>A | XP_016862653.1:p.Arg136Gln | |
| XM_017007165.2:c.407G>A | XP_016862654.1:p.Arg136Gln | |
| XM_017007166.2:c.407G>A | XP_016862655.1:p.Arg136Gln | |
| XM_017007167.2:c.413G>A | XP_016862656.1:p.Arg138Gln | |
| XM_017007168.2:c.407G>A | XP_016862657.1:p.Arg136Gln | |
| XM_017007169.2:c.413G>A | XP_016862658.1:p.Arg138Gln | |
| XR_001740259.2:n.1631G>A | ||
| XR_001740260.2:n.1631G>A | ||
| XR_001740261.2:n.1631G>A | ||
| XR_001740262.2:n.1625G>A | ||
| XR_001740263.2:n.1631G>A | ||
| NM_001304420.3:c.407G>A | NP_001291349.1:p.Arg136Gln | |
| NM_001377538.1:c.407G>A | NP_001364467.1:p.Arg136Gln | |
| NM_001377539.1:c.407G>A | NP_001364468.1:p.Arg136Gln | |
| NM_001377540.1:c.407G>A MANE Select | NP_001364469.1:p.Arg136Gln | |
| NM_001377541.1:c.407G>A | NP_001364470.1:p.Arg136Gln | |
| NM_001377542.1:c.407G>A | NP_001364471.1:p.Arg136Gln | |
| NM_001377545.1:c.407G>A | NP_001364474.1:p.Arg136Gln | |
| NM_001377549.1:c.407G>A | NP_001364478.1:p.Arg136Gln | |
| NM_001377551.1:c.407G>A | NP_001364480.1:p.Arg136Gln | |
| NM_001377552.1:c.407G>A | NP_001364481.1:p.Arg136Gln | |
| NM_001377555.1:c.407G>A | NP_001364484.1:p.Arg136Gln | |
| NM_001377557.1:c.407G>A | NP_001364486.1:p.Arg136Gln | |
| NM_001377559.1:c.407G>A | NP_001364488.1:p.Arg136Gln | |
| NM_001377562.1:c.407G>A | NP_001364491.1:p.Arg136Gln | |
| NM_001377921.1:c.407G>A | NP_001364850.1:p.Arg136Gln | |
| NM_001377922.1:c.407G>A | NP_001364851.1:p.Arg136Gln | |
| NM_001377923.1:c.407G>A | NP_001364852.1:p.Arg136Gln | |
| NM_001377924.1:c.407G>A | NP_001364853.1:p.Arg136Gln | |
| NM_001377925.1:c.407G>A | NP_001364854.1:p.Arg136Gln | |
| NM_007159.5:c.407G>A | NP_009090.2:p.Arg136Gln | |
| NR_165328.1:n.1551G>A |