COSMIC:
COSM1128108 (not active)
COSM1128109 (not active)
COSM1128110 (not active)
Revel Score:
ENST00000368679
0.020
ENST00000368676
0.020
ENST00000448723 (MANE Select)
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59085498 (AMR)
Genomes Max Group AF
0.59451804 (AMR)
Exomes Max Group AF
0.58702627 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126330456C>G , CM000672.2:g.126330456C>G | GRCh38 |
| NC_000010.10:g.128019025C>G , CM000672.1:g.128019025C>G | GRCh37 |
| NC_000010.9:g.128009015C>G | NCBI36 |
| NG_029050.1:g.63103G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448723.2:c.142G>C MANE Select | ENSP00000391268.2:p.Gly48Arg | |
| ENST00000368676.8:c.142G>C | ENSP00000357665.4:p.Gly48Arg | |
| ENST00000368679.8:c.142G>C | ENSP00000357668.4:p.Gly48Arg | |
| ENST00000448723.1:c.142G>C | ENSP00000391268.1:p.Gly48Arg | |
| NM_001288973.1:c.142G>C | NP_001275902.1:p.Gly48Arg | |
| NM_001288974.1:c.142G>C | NP_001275903.1:p.Gly48Arg | |
| NM_001288975.1:c.142G>C | NP_001275904.1:p.Gly48Arg | |
| NM_003474.5:c.142G>C | NP_003465.3:p.Gly48Arg | |
| NM_021641.4:c.142G>C | NP_067673.2:p.Gly48Arg | |
| NM_001288973.2:c.142G>C MANE Select | NP_001275902.1:p.Gly48Arg | |
| NM_001288974.2:c.142G>C | NP_001275903.1:p.Gly48Arg | |
| NM_001288975.2:c.142G>C | NP_001275904.1:p.Gly48Arg | |
| NM_003474.6:c.142G>C | NP_003465.3:p.Gly48Arg | |
| NM_021641.5:c.142G>C | NP_067673.2:p.Gly48Arg |