Linked Data
dbSNP Id:
rs780309380
ExAC:
7:150654487 A / C
gnomAD v2:
7-150654487-A-C
gnomAD v4:
7-150957399-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957399A>C , CM000669.2:g.150957399A>C | GRCh38 |
| NC_000007.13:g.150654487A>C , CM000669.1:g.150654487A>C | GRCh37 |
| NC_000007.12:g.150285420A>C | NCBI36 |
| NG_008916.1:g.25528T>G , LRG_288:g.25528T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1853T>G | ||
| ENST00000262186.10:c.1020T>G MANE Select | ENSP00000262186.5:p.Phe340Leu | |
| ENST00000262186.9:c.1020T>G | ENSP00000262186.5:p.Phe340Leu | |
| ENST00000430723.4:c.672T>G | ENSP00000387657.4:p.Phe224Leu | |
| ENST00000532957.5:n.1243T>G | ||
| NM_000238.3:c.1020T>G , LRG_288t1:c.1020T>G | NP_000229.1:p.Phe340Leu | |
| NM_172056.2:c.1020T>G , LRG_288t2:c.1020T>G | NP_742053.1:p.Phe340Leu | |
| XM_011516185.1:c.720T>G | XP_011514487.1:p.Phe240Leu | |
| XM_011516186.1:c.1020T>G | XP_011514488.1:p.Phe340Leu | |
| XM_011516185.2:c.720T>G | XP_011514487.1:p.Phe240Leu | |
| XM_011516186.3:c.1020T>G | XP_011514488.1:p.Phe340Leu | |
| XM_017012195.1:c.870T>G | XP_016867684.1:p.Phe290Leu | |
| XM_017012196.1:c.843T>G | XP_016867685.1:p.Phe281Leu | |
| NM_000238.4:c.1020T>G MANE Select | NP_000229.1:p.Phe340Leu |