Revel Score:
ENST00000302850 (MANE Select)
0.855
ENST00000341500
0.855
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125482C>T , CM000681.2:g.7125482C>T | GRCh38 |
| NC_000019.9:g.7125493C>T , CM000681.1:g.7125493C>T | GRCh37 |
| NC_000019.8:g.7076493C>T | NCBI36 |
| NG_008852.2:g.173519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3059G>A MANE Select | ENSP00000303830.4:p.Arg1020Gln | |
| ENST00000302850.9:c.3059G>A | ENSP00000303830.4:p.Arg1020Gln | |
| ENST00000341500.9:c.3023G>A | ENSP00000342838.4:p.Arg1008Gln | |
| NM_000208.2:c.3059G>A | NP_000199.2:p.Arg1020Gln | |
| NM_000208.3:c.3059G>A | NP_000199.2:p.Arg1020Gln | |
| NM_001079817.1:c.3023G>A | NP_001073285.1:p.Arg1008Gln | |
| NM_001079817.2:c.3023G>A | NP_001073285.1:p.Arg1008Gln | |
| XM_011527988.1:c.3134G>A | XP_011526290.1:p.Arg1045Gln | |
| XM_011527989.1:c.3098G>A | XP_011526291.1:p.Arg1033Gln | |
| XM_011527988.2:c.3056G>A | XP_011526290.2:p.Arg1019Gln | |
| XM_011527989.3:c.3020G>A | XP_011526291.2:p.Arg1007Gln | |
| NM_000208.4:c.3059G>A MANE Select | NP_000199.2:p.Arg1020Gln | |
| NM_001079817.3:c.3023G>A | NP_001073285.1:p.Arg1008Gln |