Revel Score:
ENST00000308660 (MANE Select)
0.147
ENST00000515241
0.147
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02918467 (NFE)
Genomes Max Group AF
0.03185808 (NFE)
Exomes Max Group AF
0.02896087 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126915120C>T , CM000667.2:g.126915120C>T | GRCh38 |
| NC_000005.9:g.126250812C>T , CM000667.1:g.126250812C>T | GRCh37 |
| NC_000005.8:g.126278711C>T | NCBI36 |
| NG_033192.1:g.120689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308660.6:c.203G>A MANE Select | ENSP00000309141.5:p.Arg68Gln | |
| ENST00000308660.5:c.203G>A | ENSP00000309141.5:p.Arg68Gln | |
| ENST00000502289.1:n.575G>A | ||
| ENST00000515241.1:c.203G>A | ENSP00000421979.1:p.Arg68Gln | |
| NM_178450.4:c.203G>A | NP_848545.1:p.Arg68Gln | |
| XM_011543128.1:c.549+2864G>A | XP_011541430.1:n.549+2864G>A | |
| XM_011543129.1:c.203G>A | XP_011541431.1:p.Arg68Gln | |
| XM_011543130.1:c.203G>A | XP_011541432.1:p.Arg68Gln | |
| XM_011543131.1:c.203G>A | XP_011541433.1:p.Arg68Gln | |
| XM_011543128.2:c.549+2864G>A | XP_011541430.1:n.549+2864G>A | |
| XM_011543131.3:c.203G>A | XP_011541433.1:p.Arg68Gln | |
| XM_017009014.1:c.231+2864G>A | XP_016864503.1:n.231+2864G>A | |
| XM_017009015.1:c.203G>A | XP_016864504.1:p.Arg68Gln | |
| NM_178450.5:c.203G>A MANE Select | NP_848545.1:p.Arg68Gln |