COSMIC:
COSM148694 (not active)
COSM5905090 (not active)
Revel Score:
ENST00000262262 (MANE Select)
0.037
ENST00000391796
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49767151 (AFR)
Genomes Max Group AF
0.4979226 (AFR)
Exomes Max Group AF
0.49345173 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51225385A>G , CM000681.2:g.51225385A>G | GRCh38 |
| NC_000019.9:g.51728641A>G , CM000681.1:g.51728641A>G | GRCh37 |
| NC_000019.8:g.56420453A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262262.5:c.205A>G MANE Select | ENSP00000262262.3:p.Arg69Gly | |
| ENST00000262262.4:c.205A>G | ENSP00000262262.3:p.Arg69Gly | |
| ENST00000391796.7:c.205A>G | ENSP00000375673.2:p.Arg69Gly | |
| ENST00000421133.6:c.37+230A>G | ENSP00000410126.1:n.37+230A>G | |
| ENST00000436584.6:c.37+230A>G | ENSP00000403331.2:n.37+230A>G | |
| ENST00000601785.5:n.255A>G | ||
| NM_001082618.1:c.37+230A>G | NP_001076087.1:n.37+230A>G | |
| NM_001177608.1:c.205A>G | NP_001171079.1:p.Arg69Gly | |
| NM_001772.3:c.205A>G | NP_001763.3:p.Arg69Gly | |
| XM_011527531.1:c.367A>G | XP_011525833.1:p.Arg123Gly | |
| XM_011527532.1:c.205A>G | XP_011525834.1:p.Arg69Gly | |
| XR_935875.1:n.439A>G | ||
| XM_011527531.2:c.367A>G | XP_011525833.1:p.Arg123Gly | |
| XM_011527532.2:c.205A>G | XP_011525834.1:p.Arg69Gly | |
| XM_017027508.1:c.367A>G | XP_016882997.1:p.Arg123Gly | |
| XM_017027509.1:c.367A>G | XP_016882998.1:p.Arg123Gly | |
| XM_017027510.1:c.199+230A>G | XP_016882999.1:n.199+230A>G | |
| NM_001772.4:c.205A>G MANE Select | NP_001763.3:p.Arg69Gly | |
| NM_001082618.2:c.37+230A>G | NP_001076087.1:n.37+230A>G | |
| NM_001177608.2:c.205A>G | NP_001171079.1:p.Arg69Gly |