ClinVar Variation:
COSMIC:
COSM3751836
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34279292 (SAS)
Genomes Max Group AF
0.33331201 (SAS)
Exomes Max Group AF
0.34264114 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470323T>C , CM000672.2:g.49470323T>C | GRCh38 |
| NC_000010.10:g.50678369T>C , CM000672.1:g.50678369T>C | GRCh37 |
| NC_000010.9:g.50348375T>C | NCBI36 |
| NG_009442.1:g.73779A>G , LRG_465:g.73779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3637A>G MANE Select | ENSP00000348089.5:p.Arg1213Gly | |
| ENST00000679552.1:n.708A>G | ||
| ENST00000679871.1:n.783A>G | ||
| ENST00000679974.1:n.686A>G | ||
| ENST00000681632.1:n.5040A>G | ||
| ENST00000681659.1:c.3478A>G | ENSP00000505631.1:p.Arg1160Gly | |
| ENST00000355832.9:c.3637A>G | ENSP00000348089.5:p.Arg1213Gly | |
| ENST00000623073.3:c.*1933A>G | ENSP00000485650.1:n.*1933A>G | |
| ENST00000623115.3:c.1747A>G | ENSP00000485321.1:p.Arg583Gly | |
| ENST00000624341.3:c.1469A>G | ||
| NM_000124.3:c.3637A>G | NP_000115.1:p.Arg1213Gly | |
| XR_945953.1:n.243-1242T>C | ||
| NM_001346440.1:c.3637A>G | NP_001333369.1:p.Arg1213Gly | |
| NM_000124.4:c.3637A>G MANE Select | NP_000115.1:p.Arg1213Gly | |
| NM_001346440.2:c.3637A>G | NP_001333369.1:p.Arg1213Gly |