ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4419214
COSM4984937
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78016387 (AFR)
Genomes Max Group AF
0.76846614 (AFR)
Exomes Max Group AF
0.78975803 (AFR)
Revel Score:
ENST00000360971
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851228A>C , CM000668.2:g.131851228A>C | GRCh38 |
| NC_000006.11:g.132172368A>C , CM000668.1:g.132172368A>C | GRCh37 |
| NC_000006.10:g.132214061A>C | NCBI36 |
| NG_008206.1:g.48213A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.517A>C MANE Select | ENSP00000498074.1:p.Lys173Gln | |
| ENST00000650147.1:c.195A>C | ||
| ENST00000650437.1:c.108+1122A>C | ||
| ENST00000360971.6:c.517A>C | ENSP00000354238.2:p.Lys173Gln | |
| ENST00000486853.1:n.537A>C | ||
| ENST00000513998.5:c.517A>C | ENSP00000422424.1:p.Lys173Gln | |
| NM_006208.2:c.517A>C | NP_006199.2:p.Lys173Gln | |
| NM_006208.3:c.517A>C MANE Select | NP_006199.2:p.Lys173Gln |