Linked Data
ClinVar Variation Id:
345225
dbSNP Id:
rs754772724
ExAC:
3:43759999 A / G
gnomAD v2:
3-43759999-A-G
gnomAD v3:
3-43718507-A-G
gnomAD v4:
3-43718507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43718507A>G , CM000665.2:g.43718507A>G | GRCh38 |
| NC_000003.11:g.43759999A>G , CM000665.1:g.43759999A>G | GRCh37 |
| NC_000003.10:g.43735003A>G | NCBI36 |
| NG_007090.3:g.32625A>G | |
| NG_007090.5:g.32638A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413300.2:c.424A>G | ||
| ENST00000454293.2:c.902A>G | ENSP00000412014.2:p.Lys301Arg | |
| ENST00000458276.7:c.*1A>G | ENSP00000390849.3:n.*1A>G | |
| ENST00000463153.2:c.252A>G | ||
| ENST00000642351.1:c.902A>G | ENSP00000494478.1:p.Lys301Arg | |
| ENST00000643140.1:c.*387A>G | ENSP00000495588.1:n.*387A>G | |
| ENST00000643477.1:c.*486A>G | ENSP00000496220.1:n.*486A>G | |
| ENST00000643500.1:c.*226A>G | ENSP00000494735.1:n.*226A>G | |
| ENST00000643520.1:n.1191A>G | ||
| ENST00000644371.2:c.1025A>G MANE Select | ENSP00000495778.1:p.Lys342Arg | |
| ENST00000646378.1:c.*1075A>G | ENSP00000495826.1:n.*1075A>G | |
| ENST00000646799.1:c.*312A>G | ENSP00000494829.1:n.*312A>G | |
| ENST00000649763.1:c.1025A>G | ENSP00000497701.1:p.Lys342Arg | |
| ENST00000413300.1:c.426A>G | ENSP00000392159.1:p.Lys142= | |
| ENST00000458276.6:c.1025A>G | ENSP00000390849.2:p.Lys342Arg | |
| ENST00000463153.1:n.255A>G | ||
| NM_016006.4:c.1025A>G | NP_057090.2:p.Lys342Arg | |
| XM_011533779.1:c.902A>G | XP_011532081.1:p.Lys301Arg | |
| XM_011533780.1:c.*1A>G | XP_011532082.1:n.*1A>G | |
| XR_940447.1:n.970A>G | ||
| NM_001355186.1:c.1025A>G | NP_001342115.1:p.Lys342Arg | |
| NM_001365649.1:c.902A>G | NP_001352578.1:p.Lys301Arg | |
| NM_001365650.1:c.*1A>G | NP_001352579.1:n.*1A>G | |
| NM_016006.5:c.1025A>G | NP_057090.2:p.Lys342Arg | |
| NR_158560.1:n.1036A>G | ||
| NM_001355186.2:c.1025A>G | NP_001342115.1:p.Lys342Arg | |
| NM_016006.6:c.1025A>G MANE Select | NP_057090.2:p.Lys342Arg |