Revel Score:
ENST00000379942 (MANE Select)
0.989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18940029C>T , CM000685.2:g.18940029C>T | GRCh38 |
| NC_000023.10:g.18958147C>T , CM000685.1:g.18958147C>T | GRCh37 |
| NC_000023.9:g.18868068C>T | NCBI36 |
| NG_016622.1:g.49334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379942.5:c.884G>A MANE Select | ENSP00000369274.4:p.Arg295His | |
| ENST00000379942.4:c.884G>A | ENSP00000369274.4:p.Arg295His | |
| NM_000292.2:c.884G>A | NP_000283.1:p.Arg295His | |
| XM_005274548.3:c.884G>A | XP_005274605.1:p.Arg295His | |
| XM_005274550.3:c.884G>A | XP_005274607.1:p.Arg295His | |
| XM_006724496.2:c.884G>A | XP_006724559.1:p.Arg295His | |
| XM_006724498.2:c.338G>A | XP_006724561.1:p.Arg113His | |
| XM_011545537.1:c.785G>A | XP_011543839.1:p.Arg262His | |
| XR_950461.1:n.1068G>A | ||
| XM_005274548.5:c.884G>A | XP_005274605.1:p.Arg295His | |
| XM_005274550.5:c.884G>A | XP_005274607.1:p.Arg295His | |
| XM_006724496.4:c.884G>A | XP_006724559.1:p.Arg295His | |
| XM_006724498.4:c.338G>A | XP_006724561.1:p.Arg113His | |
| XM_011545537.3:c.785G>A | XP_011543839.1:p.Arg262His | |
| XM_011545538.3:c.-185G>A | XP_011543840.1:n.-185G>A | |
| XM_017029580.2:c.43G>A | XP_016885069.1:p.Ala15Thr | |
| XR_001755697.2:n.1054G>A | ||
| XR_001755698.2:n.1054G>A | ||
| XR_002958777.1:n.1054G>A | ||
| XR_950461.3:n.1054G>A | ||
| NM_000292.3:c.884G>A MANE Select | NP_000283.1:p.Arg295His |