Revel Score:
ENST00000262262 (MANE Select)
0.025
ENST00000391796
0.025
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51225385A>T , CM000681.2:g.51225385A>T | GRCh38 |
| NC_000019.9:g.51728641A>T , CM000681.1:g.51728641A>T | GRCh37 |
| NC_000019.8:g.56420453A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262262.5:c.205A>T MANE Select | ENSP00000262262.3:p.Arg69Trp | |
| ENST00000262262.4:c.205A>T | ENSP00000262262.3:p.Arg69Trp | |
| ENST00000391796.7:c.205A>T | ENSP00000375673.2:p.Arg69Trp | |
| ENST00000421133.6:c.37+230A>T | ENSP00000410126.1:n.37+230A>T | |
| ENST00000436584.6:c.37+230A>T | ENSP00000403331.2:n.37+230A>T | |
| ENST00000601785.5:n.255A>T | ||
| NM_001082618.1:c.37+230A>T | NP_001076087.1:n.37+230A>T | |
| NM_001177608.1:c.205A>T | NP_001171079.1:p.Arg69Trp | |
| NM_001772.3:c.205A>T | NP_001763.3:p.Arg69Trp | |
| XM_011527531.1:c.367A>T | XP_011525833.1:p.Arg123Trp | |
| XM_011527532.1:c.205A>T | XP_011525834.1:p.Arg69Trp | |
| XR_935875.1:n.439A>T | ||
| XM_011527531.2:c.367A>T | XP_011525833.1:p.Arg123Trp | |
| XM_011527532.2:c.205A>T | XP_011525834.1:p.Arg69Trp | |
| XM_017027508.1:c.367A>T | XP_016882997.1:p.Arg123Trp | |
| XM_017027509.1:c.367A>T | XP_016882998.1:p.Arg123Trp | |
| XM_017027510.1:c.199+230A>T | XP_016882999.1:n.199+230A>T | |
| NM_001772.4:c.205A>T MANE Select | NP_001763.3:p.Arg69Trp | |
| NM_001082618.2:c.37+230A>T | NP_001076087.1:n.37+230A>T | |
| NM_001177608.2:c.205A>T | NP_001171079.1:p.Arg69Trp |