Revel Score:
ENST00000370449
0.905
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004345 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99817338T>C , CM000672.2:g.99817338T>C | GRCh38 |
| NC_000010.10:g.101577095T>C , CM000672.1:g.101577095T>C | GRCh37 |
| NC_000010.9:g.101567085T>C | NCBI36 |
| NG_011798.1:g.39633T>C | |
| NG_011798.2:g.39741T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2125T>C MANE Select | ENSP00000497274.1:p.Trp709Arg | |
| ENST00000370449.8:c.2125T>C | ENSP00000359478.4:p.Trp709Arg | |
| NM_000392.4:c.2125T>C | NP_000383.1:p.Trp709Arg | |
| XM_006717630.2:c.1429T>C | XP_006717693.1:p.Trp477Arg | |
| XM_006717631.2:c.2125T>C | XP_006717694.1:p.Trp709Arg | |
| XM_011539291.1:c.2125T>C | XP_011537593.1:p.Trp709Arg | |
| XR_945604.1:n.2314T>C | ||
| XR_945605.1:n.2316T>C | ||
| NM_000392.5:c.2125T>C MANE Select | NP_000383.2:p.Trp709Arg | |
| XM_006717630.3:c.1429T>C | XP_006717693.1:p.Trp477Arg | |
| XM_006717631.4:c.2125T>C | XP_006717694.1:p.Trp709Arg | |
| XM_011539291.3:c.2125T>C | XP_011537593.1:p.Trp709Arg | |
| XM_017015675.2:c.2125T>C | XP_016871164.1:p.Trp709Arg | |
| XR_945604.3:n.2368T>C | ||
| XR_945605.3:n.2368T>C |