ClinVar Variation:
COSMIC:
COSM5034229
COSM5034230
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54572098 (NFE)
Genomes Max Group AF
0.53583175 (NFE)
Exomes Max Group AF
0.54607615 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412737G>A , CM000673.2:g.113412737G>A | GRCh38 |
| NC_000011.9:g.113283459G>A , CM000673.1:g.113283459G>A | GRCh37 |
| NC_000011.8:g.112788669G>A | NCBI36 |
| NG_008841.1:g.67543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.957C>T MANE Select | ENSP00000354859.3:p.Pro319= | |
| ENST00000346454.7:c.870C>T | ENSP00000278597.5:p.Pro290= | |
| ENST00000362072.7:c.957C>T | ENSP00000354859.3:p.Pro319= | |
| ENST00000538967.5:c.963C>T | ENSP00000438215.1:p.Pro321= | |
| ENST00000542968.5:c.957C>T | ENSP00000442172.1:p.Pro319= | |
| ENST00000544518.5:c.954C>T | ENSP00000441068.1:p.Pro318= | |
| NM_000795.3:c.957C>T | NP_000786.1:p.Pro319= | |
| NM_016574.3:c.870C>T | NP_057658.2:p.Pro290= | |
| XM_017017296.2:c.957C>T | XP_016872785.1:p.Pro319= | |
| NM_000795.4:c.957C>T MANE Select | NP_000786.1:p.Pro319= | |
| NM_016574.4:c.870C>T | NP_057658.2:p.Pro290= |