ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860558C>T , CM000668.2:g.31860558C>T | GRCh38 |
| NC_000006.11:g.31828335C>T , CM000668.1:g.31828335C>T | GRCh37 |
| NC_000006.10:g.31936314C>T | NCBI36 |
| NG_008201.1:g.7375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.679G>A MANE Select | ENSP00000364782.4:p.Gly227Arg | |
| ENST00000677054.1:n.1922G>A | ||
| ENST00000677512.1:n.787G>A | ||
| ENST00000678869.1:n.1353G>A | ||
| ENST00000375631.4:c.679G>A | ENSP00000364782.4:p.Gly227Arg | |
| ENST00000480384.1:n.708G>A | ||
| ENST00000491768.5:c.679G>A | ENSP00000433127.1:p.Gly227Arg | |
| ENST00000495807.1:n.1813G>A | ||
| NM_000434.3:c.679G>A | NP_000425.1:p.Gly227Arg | |
| NM_000434.4:c.679G>A MANE Select | NP_000425.1:p.Gly227Arg |