ClinVar Variation:
COSMIC:
COSM5020961
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00259849 (NFE)
Genomes Max Group AF
0.00215145 (NFE)
Exomes Max Group AF
0.00260945 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16888428A>G , CM000672.2:g.16888428A>G | GRCh38 |
| NC_000010.10:g.16930427A>G , CM000672.1:g.16930427A>G | GRCh37 |
| NC_000010.9:g.16970433A>G | NCBI36 |
| NG_008967.1:g.246390T>C , LRG_540:g.246390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.8894T>C MANE Select | ENSP00000367064.4:p.Phe2965Ser | |
| ENST00000377833.8:c.8894T>C | ENSP00000367064.4:p.Phe2965Ser | |
| NM_001081.3:c.8894T>C , LRG_540t1:c.8894T>C | NP_001072.2:p.Phe2965Ser | |
| XM_011519709.1:c.4880T>C | XP_011518011.1:p.Phe1627Ser | |
| XM_011519710.1:c.4856T>C | XP_011518012.1:p.Phe1619Ser | |
| XM_011519711.1:c.4736T>C | XP_011518013.1:p.Phe1579Ser | |
| XM_011519709.2:c.4880T>C | XP_011518011.1:p.Phe1627Ser | |
| XM_011519710.2:c.4856T>C | XP_011518012.1:p.Phe1619Ser | |
| XM_011519711.3:c.4736T>C | XP_011518013.1:p.Phe1579Ser | |
| NM_001081.4:c.8894T>C MANE Select | NP_001072.2:p.Phe2965Ser |