ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001455 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001378 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151814602C>T , CM000663.2:g.151814602C>T | GRCh38 |
| NC_000001.10:g.151787078C>T , CM000663.1:g.151787078C>T | GRCh37 |
| NC_000001.9:g.150053702C>T | NCBI36 |
| NG_029118.1:g.22271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.620G>A | ENSP00000498548.2:p.Arg207Gln | |
| ENST00000697811.1:c.905G>A | ENSP00000513447.1:p.Arg302Gln | |
| ENST00000697812.1:n.43G>A | ||
| ENST00000697813.1:n.900G>A | ||
| ENST00000318247.7:c.905G>A MANE Select | ENSP00000327025.6:p.Arg302Gln | |
| ENST00000356728.11:c.842G>A | ENSP00000349164.6:p.Arg281Gln | |
| ENST00000638901.1:c.1096G>A | ||
| ENST00000651814.1:c.905G>A | ENSP00000498691.1:p.Arg302Gln | |
| ENST00000651893.1:c.315G>A | ||
| ENST00000318247.6:c.905G>A | ENSP00000327025.6:p.Arg302Gln | |
| ENST00000356728.10:c.842G>A | ENSP00000349164.6:p.Arg281Gln | |
| ENST00000480719.1:n.188G>A | ||
| NM_001001523.1:c.842G>A | NP_001001523.1:p.Arg281Gln | |
| NM_005060.3:c.905G>A | NP_005051.2:p.Arg302Gln | |
| XM_006711484.2:c.1304G>A | XP_006711547.2:p.Arg435Gln | |
| XR_426792.2:n.1584G>A | ||
| XM_006711484.4:c.1304G>A | XP_006711547.2:p.Arg435Gln | |
| NM_005060.4:c.905G>A MANE Select | NP_005051.2:p.Arg302Gln | |
| NM_001001523.2:c.842G>A | NP_001001523.1:p.Arg281Gln |