Revel Score:
ENST00000255409 (MANE Select)
0.098
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5229055 (NFE)
Genomes Max Group AF
0.52177451 (NFE)
Exomes Max Group AF
0.52272913 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203183673T>C , CM000663.2:g.203183673T>C | GRCh38 |
| NC_000001.10:g.203152801T>C , CM000663.1:g.203152801T>C | GRCh37 |
| NC_000001.9:g.201419424T>C | NCBI36 |
| NG_013056.1:g.8122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255409.8:c.433A>G MANE Select | ENSP00000255409.3:p.Arg145Gly | |
| ENST00000255409.7:c.433A>G | ENSP00000255409.3:p.Arg145Gly | |
| NM_001276.2:c.433A>G | NP_001267.2:p.Arg145Gly | |
| XM_011509105.1:c.451A>G | XP_011507407.1:p.Arg151Gly | |
| XM_011509106.1:c.451A>G | XP_011507408.1:p.Arg151Gly | |
| XM_011509107.1:c.433A>G | XP_011507409.1:p.Arg145Gly | |
| XM_011509108.1:c.451A>G | XP_011507410.1:p.Arg151Gly | |
| NM_001276.3:c.433A>G | NP_001267.2:p.Arg145Gly | |
| NM_001276.4:c.433A>G MANE Select | NP_001267.2:p.Arg145Gly |