COSMIC:
COSM4984964 (not active)
COSM4984965 (not active)
Revel Score:
ENST00000368186
0.047
ENST00000368184 (MANE Select)
0.047
ENST00000292392
0.047
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62551778 (AFR)
Genomes Max Group AF
0.62210012 (AFR)
Exomes Max Group AF
0.62536618 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.157698600T>C , CM000663.2:g.157698600T>C | GRCh38 |
| NC_000001.10:g.157668390T>C , CM000663.1:g.157668390T>C | GRCh37 |
| NC_000001.9:g.155935014T>C | NCBI36 |
| NG_023241.1:g.7258A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368184.8:c.82A>G MANE Select | ENSP00000357167.3:p.Asn28Asp | |
| ENST00000368184.7:c.82A>G | ENSP00000357167.3:p.Asn28Asp | |
| ENST00000368186.9:c.82A>G | ENSP00000357169.5:p.Asn28Asp | |
| ENST00000477837.5:c.82A>G | ENSP00000433430.1:p.Asn28Asp | |
| ENST00000480682.5:n.247A>G | ||
| ENST00000485028.5:c.82A>G | ENSP00000434331.1:p.Asn28Asp | |
| ENST00000492769.5:c.82A>G | ENSP00000435487.1:p.Asn28Asp | |
| ENST00000494724.5:n.247A>G | ||
| ENST00000496769.1:c.82A>G | ENSP00000473680.1:p.Asn28Asp | |
| NM_052939.3:c.82A>G | NP_443171.2:p.Asn28Asp | |
| XM_006711145.1:c.82A>G | XP_006711208.1:p.Asn28Asp | |
| XM_011509138.1:c.82A>G | XP_011507440.1:p.Asn28Asp | |
| XR_241065.1:n.280A>G | ||
| NM_001320333.1:c.82A>G | NP_001307262.1:p.Asn28Asp | |
| NR_135214.1:n.389A>G | ||
| NR_135215.1:n.389A>G | ||
| NR_135216.1:n.389A>G | ||
| NR_135217.1:n.389A>G | ||
| NM_052939.4:c.82A>G MANE Select | NP_443171.2:p.Asn28Asp | |
| NM_001320333.2:c.82A>G | NP_001307262.1:p.Asn28Asp | |
| NR_135214.2:n.286A>G | ||
| NR_135215.2:n.286A>G | ||
| NR_135216.2:n.286A>G | ||
| NR_135217.2:n.286A>G |