COSMIC:
COSM4134823 (not active)
Revel Score:
ENST00000378827 (MANE Select)
0.411
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92770533 (AFR)
Genomes Max Group AF
0.92004841 (AFR)
Exomes Max Group AF
0.93185627 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778468A>T , CM000682.2:g.6778468A>T | GRCh38 |
| NC_000020.10:g.6759115A>T , CM000682.1:g.6759115A>T | GRCh37 |
| NC_000020.9:g.6707115A>T | NCBI36 |
| NG_023233.1:g.15371A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.570A>T MANE Select | ENSP00000368104.3:p.Arg190Ser | |
| ENST00000378827.4:c.570A>T | ENSP00000368104.3:p.Arg190Ser | |
| NM_001200.2:c.570A>T | NP_001191.1:p.Arg190Ser | |
| XM_011529323.1:c.102A>T | XP_011527625.1:p.Arg34Ser | |
| NM_001200.3:c.570A>T | NP_001191.1:p.Arg190Ser | |
| NM_001200.4:c.570A>T MANE Select | NP_001191.1:p.Arg190Ser |