Revel Score:
ENST00000465633
0.508
ENST00000260665 (MANE Select)
0.508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43943793C>G , CM000664.2:g.43943793C>G | GRCh38 |
| NC_000002.11:g.44170932C>G , CM000664.1:g.44170932C>G | GRCh37 |
| NC_000002.10:g.44024436C>G | NCBI36 |
| NG_008247.1:g.57213G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.2398G>C | ENSP00000386562.2:p.Gly800Arg | |
| ENST00000447246.2:c.2398G>C | ENSP00000403637.2:p.Gly800Arg | |
| ENST00000681961.1:n.2418G>C | ||
| ENST00000682104.1:c.2272G>C | ENSP00000507716.1:p.Gly758Arg | |
| ENST00000682303.1:c.*2184G>C | ENSP00000508325.1:n.*2184G>C | |
| ENST00000682308.1:c.2398G>C | ENSP00000507056.1:p.Gly800Arg | |
| ENST00000682480.1:c.2398G>C | ENSP00000508344.1:p.Gly800Arg | |
| ENST00000682546.1:c.2395G>C | ENSP00000508188.1:p.Gly799Arg | |
| ENST00000682585.1:c.2398G>C | ENSP00000506885.1:p.Gly800Arg | |
| ENST00000682595.1:n.2980G>C | ||
| ENST00000682607.1:c.816G>C | ||
| ENST00000682779.1:c.2389G>C | ENSP00000507947.1:p.Gly797Arg | |
| ENST00000682845.1:n.1500G>C | ||
| ENST00000682885.1:c.2353G>C | ENSP00000508036.1:p.Gly785Arg | |
| ENST00000682933.1:n.2472G>C | ||
| ENST00000683072.1:n.2980G>C | ||
| ENST00000683125.1:c.2398G>C | ENSP00000507939.1:p.Gly800Arg | |
| ENST00000683213.1:c.2401G>C | ENSP00000507751.1:p.Gly801Arg | |
| ENST00000683220.1:c.2428G>C | ENSP00000507151.1:p.Gly810Arg | |
| ENST00000683329.1:n.3201G>C | ||
| ENST00000683346.1:c.*2273G>C | ENSP00000507458.1:n.*2273G>C | |
| ENST00000683459.1:n.2985G>C | ||
| ENST00000683590.1:c.2398G>C | ENSP00000506820.1:p.Gly800Arg | |
| ENST00000683623.1:c.2305G>C | ENSP00000507702.1:p.Gly769Arg | |
| ENST00000683645.1:n.2949G>C | ||
| ENST00000683694.1:n.1149G>C | ||
| ENST00000683796.1:c.*2270G>C | ENSP00000508221.1:n.*2270G>C | |
| ENST00000683802.1:n.5323G>C | ||
| ENST00000683833.1:c.2389G>C | ENSP00000506852.1:p.Gly797Arg | |
| ENST00000683989.1:c.2398G>C | ENSP00000507510.1:p.Gly800Arg | |
| ENST00000683994.1:c.2398G>C | ENSP00000507181.1:p.Gly800Arg | |
| ENST00000684290.1:c.*92G>C | ENSP00000507243.1:n.*92G>C | |
| ENST00000684306.1:c.*2311G>C | ENSP00000508384.1:n.*2311G>C | |
| ENST00000684341.1:n.2418G>C | ||
| ENST00000684383.1:c.*2036G>C | ENSP00000506863.1:n.*2036G>C | |
| ENST00000684397.1:c.102G>C | ||
| ENST00000684619.1:c.*2270G>C | ENSP00000508088.1:n.*2270G>C | |
| ENST00000684743.1:n.3429G>C | ||
| ENST00000260665.12:c.2398G>C MANE Select | ENSP00000260665.7:p.Gly800Arg | |
| ENST00000260665.11:c.2398G>C | ENSP00000260665.7:p.Gly800Arg | |
| NM_133259.3:c.2398G>C | NP_573566.2:p.Gly800Arg | |
| XM_006711915.2:c.2320G>C | XP_006711978.1:p.Gly774Arg | |
| XM_006711916.2:c.2398G>C | XP_006711979.1:p.Gly800Arg | |
| XM_011532473.1:c.2398G>C | XP_011530775.1:p.Gly800Arg | |
| XM_011532474.1:c.2398G>C | XP_011530776.1:p.Gly800Arg | |
| XM_006711916.3:c.2398G>C | XP_006711979.1:p.Gly800Arg | |
| XM_017003117.1:c.2320G>C | XP_016858606.1:p.Gly774Arg | |
| XR_002958896.1:n.2440G>C | ||
| NM_133259.4:c.2398G>C MANE Select | NP_573566.2:p.Gly800Arg |