Revel Score:
ENST00000266126 (MANE Select)
0.974
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059981 (NFE)
Genomes Max Group AF
0.00036746 (NFE)
Exomes Max Group AF
0.00060686 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005867G>T , CM000676.2:g.75005867G>T | GRCh38 |
| NC_000014.8:g.75472570G>T , CM000676.1:g.75472570G>T | GRCh37 |
| NC_000014.7:g.74542323G>T | NCBI36 |
| NG_013333.1:g.7959G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.599G>T MANE Select | ENSP00000266126.5:p.Gly200Val | |
| ENST00000266126.9:c.599G>T | ENSP00000266126.5:p.Gly200Val | |
| ENST00000553401.5:c.597G>T | ENSP00000451681.1:p.Gly199= | |
| ENST00000556028.5:c.598-30G>T | ENSP00000452311.1:n.598-30G>T | |
| NM_014239.3:c.599G>T | NP_055054.1:p.Gly200Val | |
| NM_014239.4:c.599G>T MANE Select | NP_055054.1:p.Gly200Val |