COSMIC:
COSM1632628
COSM1632629
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00701663 (AFR)
Genomes Max Group AF
0.00774772 (AFR)
Exomes Max Group AF
0.00565707 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128793A>G , CM000684.2:g.42128793A>G | GRCh38 |
| NC_000022.10:g.42524795A>G , CM000684.1:g.42524795A>G | GRCh37 |
| NC_000022.9:g.40854739A>G | NCBI36 |
| NG_008376.3:g.6199T>C | |
| NG_008376.4:g.7018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.504T>C | ENSP00000353241.6:p.Phe168= | |
| ENST00000645361.2:c.657T>C MANE Select | ENSP00000496150.1:p.Phe219= | |
| ENST00000359033.4:c.504T>C | ENSP00000351927.4:p.Phe168= | |
| ENST00000360124.9:c.324T>C | ENSP00000353241.5:p.Phe108= | |
| ENST00000360608.9:c.657T>C | ENSP00000353820.5:p.Phe219= | |
| ENST00000389970.7:c.591T>C | ENSP00000374620.4:p.Phe197= | |
| ENST00000488442.1:n.1381T>C | ||
| NM_000106.5:c.657T>C | NP_000097.3:p.Phe219= | |
| NM_001025161.2:c.504T>C | NP_001020332.2:p.Phe168= | |
| XM_011529966.1:c.657T>C | XP_011528268.1:p.Phe219= | |
| XM_011529967.1:c.657T>C | XP_011528269.1:p.Phe219= | |
| XM_011529968.1:c.657T>C | XP_011528270.1:p.Phe219= | |
| XM_011529969.1:c.513T>C | XP_011528271.1:p.Phe171= | |
| XM_011529970.1:c.504T>C | XP_011528272.1:p.Phe168= | |
| XM_011529971.1:c.513T>C | XP_011528273.1:p.Phe171= | |
| XM_011529972.1:c.657T>C | XP_011528274.1:p.Phe219= | |
| NM_000106.6:c.657T>C MANE Select | NP_000097.3:p.Phe219= | |
| NM_001025161.3:c.504T>C | NP_001020332.2:p.Phe168= |