Revel Score:
ENST00000465633
0.537
ENST00000260665 (MANE Select)
0.537
ENST00000409946
0.537
ENST00000409659
0.537
ENST00000447246
0.537
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020674 (AMR)
Exomes Max Group AF
0.00025944 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43976185T>C , CM000664.2:g.43976185T>C | GRCh38 |
| NC_000002.11:g.44203324T>C , CM000664.1:g.44203324T>C | GRCh37 |
| NC_000002.10:g.44056828T>C | NCBI36 |
| NG_008247.1:g.24821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.695A>G | ENSP00000386562.2:p.Glu232Gly | |
| ENST00000409946.6:c.695A>G | ENSP00000386234.1:p.Glu232Gly | |
| ENST00000447246.2:c.695A>G | ENSP00000403637.2:p.Glu232Gly | |
| ENST00000681959.1:n.309A>G | ||
| ENST00000681961.1:n.715A>G | ||
| ENST00000682104.1:c.569A>G | ENSP00000507716.1:p.Glu190Gly | |
| ENST00000682303.1:c.*567A>G | ENSP00000508325.1:n.*567A>G | |
| ENST00000682308.1:c.695A>G | ENSP00000507056.1:p.Glu232Gly | |
| ENST00000682480.1:c.695A>G | ENSP00000508344.1:p.Glu232Gly | |
| ENST00000682546.1:c.695A>G | ENSP00000508188.1:p.Glu232Gly | |
| ENST00000682585.1:c.695A>G | ENSP00000506885.1:p.Glu232Gly | |
| ENST00000682595.1:n.710A>G | ||
| ENST00000682779.1:c.686A>G | ENSP00000507947.1:p.Glu229Gly | |
| ENST00000682885.1:c.695A>G | ENSP00000508036.1:p.Glu232Gly | |
| ENST00000683072.1:n.710A>G | ||
| ENST00000683082.1:n.713A>G | ||
| ENST00000683125.1:c.695A>G | ENSP00000507939.1:p.Glu232Gly | |
| ENST00000683213.1:c.695A>G | ENSP00000507751.1:p.Glu232Gly | |
| ENST00000683220.1:c.695A>G | ENSP00000507151.1:p.Glu232Gly | |
| ENST00000683329.1:n.1498A>G | ||
| ENST00000683346.1:c.*567A>G | ENSP00000507458.1:n.*567A>G | |
| ENST00000683459.1:n.715A>G | ||
| ENST00000683590.1:c.695A>G | ENSP00000506820.1:p.Glu232Gly | |
| ENST00000683623.1:c.695A>G | ENSP00000507702.1:p.Glu232Gly | |
| ENST00000683796.1:c.*567A>G | ENSP00000508221.1:n.*567A>G | |
| ENST00000683802.1:n.531A>G | ||
| ENST00000683833.1:c.686A>G | ENSP00000506852.1:p.Glu229Gly | |
| ENST00000683934.1:c.349A>G | ||
| ENST00000683989.1:c.695A>G | ENSP00000507510.1:p.Glu232Gly | |
| ENST00000683994.1:c.695A>G | ENSP00000507181.1:p.Glu232Gly | |
| ENST00000684290.1:c.695A>G | ENSP00000507243.1:p.Glu232Gly | |
| ENST00000684306.1:c.*608A>G | ENSP00000508384.1:n.*608A>G | |
| ENST00000684329.1:n.1501A>G | ||
| ENST00000684341.1:n.715A>G | ||
| ENST00000684383.1:c.*333A>G | ENSP00000506863.1:n.*333A>G | |
| ENST00000684482.1:c.349A>G | ||
| ENST00000684619.1:c.*567A>G | ENSP00000508088.1:n.*567A>G | |
| ENST00000260665.12:c.695A>G MANE Select | ENSP00000260665.7:p.Glu232Gly | |
| ENST00000260665.11:c.695A>G | ENSP00000260665.7:p.Glu232Gly | |
| ENST00000409659.5:c.695A>G | ENSP00000386562.1:p.Glu232Gly | |
| ENST00000409946.5:c.695A>G | ENSP00000386234.1:p.Glu232Gly | |
| ENST00000447246.1:c.617A>G | ENSP00000403637.1:p.Glu206Gly | |
| NM_133259.3:c.695A>G | NP_573566.2:p.Glu232Gly | |
| XM_006711915.2:c.617A>G | XP_006711978.1:p.Glu206Gly | |
| XM_006711916.2:c.695A>G | XP_006711979.1:p.Glu232Gly | |
| XM_011532473.1:c.695A>G | XP_011530775.1:p.Glu232Gly | |
| XM_011532474.1:c.695A>G | XP_011530776.1:p.Glu232Gly | |
| XM_006711916.3:c.695A>G | XP_006711979.1:p.Glu232Gly | |
| XM_017003117.1:c.617A>G | XP_016858606.1:p.Glu206Gly | |
| XR_002958896.1:n.737A>G | ||
| NM_133259.4:c.695A>G MANE Select | NP_573566.2:p.Glu232Gly |