COSMIC:
COSM5354280 (not active)
Revel Score:
ENST00000348749 (MANE Select)
0.491
ENST00000261007
0.491
ENST00000409542
0.491
ENST00000409219
0.491
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041618 (AMR)
Genomes Max Group AF
0.00097226 (AMR)
Exomes Max Group AF
0.00017929 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174748204C>T , CM000664.2:g.174748204C>T | GRCh38 |
| NC_000002.11:g.175612932C>T , CM000664.1:g.175612932C>T | GRCh37 |
| NC_000002.10:g.175321178C>T | NCBI36 |
| NG_008172.1:g.21269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.805G>A | ENSP00000490338.2:p.Gly269Arg | |
| ENST00000672640.1:c.805G>A | ENSP00000500507.1:p.Gly269Arg | |
| ENST00000261007.9:c.1369G>A | ENSP00000261007.5:p.Gly457Arg | |
| ENST00000348749.9:c.1294G>A MANE Select | ENSP00000261008.5:p.Gly432Arg | |
| ENST00000409219.5:c.1054G>A | ENSP00000386611.1:p.Gly352Arg | |
| ENST00000409542.5:c.1048G>A | ENSP00000387026.1:p.Gly350Arg | |
| ENST00000435083.5:c.*938G>A | ENSP00000395805.1:n.*938G>A | |
| NM_000079.3:c.1294G>A | NP_000070.1:p.Gly432Arg | |
| NM_001039523.2:c.1369G>A | NP_001034612.1:p.Gly457Arg | |
| XM_017003256.1:c.1390G>A | XP_016858745.1:p.Gly464Arg | |
| XM_017003257.1:c.1315G>A | XP_016858746.1:p.Gly439Arg | |
| NM_000079.4:c.1294G>A MANE Select | NP_000070.1:p.Gly432Arg | |
| NM_001039523.3:c.1369G>A | NP_001034612.1:p.Gly457Arg |