COSMIC:
COSM3754704 (not active)
COSM3754705 (not active)
Revel Score:
ENST00000399410 (MANE Select)
0.293
ENST00000399408
0.293
ENST00000346370
0.293
ENST00000345148
0.293
ENST00000536381
0.293
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06354781 (AMR)
Genomes Max Group AF
0.0453498 (EAS)
Exomes Max Group AF
0.07219199 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16083418G>A , CM000678.2:g.16083418G>A | GRCh38 |
| NC_000016.9:g.16177275G>A , CM000678.1:g.16177275G>A | GRCh37 |
| NC_000016.8:g.16084776G>A | NCBI36 |
| NG_028268.1:g.138842G>A | |
| NG_028268.2:g.138842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.2168G>A | ENSP00000382340.4:p.Arg723Gln | |
| ENST00000399410.8:c.2168G>A MANE Select | ENSP00000382342.3:p.Arg723Gln | |
| ENST00000572882.3:c.2116-3406G>A | ENSP00000461615.2:n.2116-3406G>A | |
| ENST00000677164.1:c.1989+3940G>A | ENSP00000502873.1:n.1989+3940G>A | |
| ENST00000678422.1:c.2168G>A | ENSP00000503954.1:p.Arg723Gln | |
| ENST00000399408.6:c.1190G>A | ENSP00000382340.3:p.Arg397Gln | |
| ENST00000399410.7:c.2168G>A | ENSP00000382342.3:p.Arg723Gln | |
| ENST00000572882.2:c.1863G>A | ||
| ENST00000575422.5:n.408G>A | ||
| NM_004996.3:c.2168G>A | NP_004987.2:p.Arg723Gln | |
| XM_011522497.1:c.2144G>A | XP_011520799.1:p.Arg715Gln | |
| XM_011522498.1:c.2075G>A | XP_011520800.1:p.Arg692Gln | |
| XM_011522498.2:c.2075G>A | XP_011520800.1:p.Arg692Gln | |
| XM_017023237.1:c.2222G>A | XP_016878726.1:p.Arg741Gln | |
| XM_017023238.1:c.2096G>A | XP_016878727.1:p.Arg699Gln | |
| XM_017023239.1:c.2084G>A | XP_016878728.1:p.Arg695Gln | |
| XM_017023240.1:c.2170-3406G>A | XP_016878729.1:n.2170-3406G>A | |
| XM_017023241.1:c.1958G>A | XP_016878730.1:p.Arg653Gln | |
| XM_017023242.1:c.2169+3940G>A | XP_016878731.1:n.2169+3940G>A | |
| XM_017023243.2:c.2222G>A | XP_016878732.1:p.Arg741Gln | |
| NM_004996.4:c.2168G>A MANE Select | NP_004987.2:p.Arg723Gln |