Linked Data
ClinVar Variation Id:
324250
dbSNP Id:
rs377571192
ExAC:
17:59543233 A / G
gnomAD v2:
17-59543233-A-G
gnomAD v3:
17-61465872-A-G
gnomAD v4:
17-61465872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61465872A>G , CM000679.2:g.61465872A>G | GRCh38 |
| NC_000017.10:g.59543233A>G , CM000679.1:g.59543233A>G | GRCh37 |
| NC_000017.9:g.56898015A>G | NCBI36 |
| NG_008080.1:g.14427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642491.1:c.335A>G | ENSP00000495714.1:p.Lys112Arg | |
| ENST00000644296.1:c.335A>G MANE Select | ENSP00000495986.1:p.Lys112Arg | |
| ENST00000240335.1:c.335A>G | ENSP00000240335.1:p.Lys112Arg | |
| ENST00000393853.8:c.335A>G | ENSP00000377435.3:p.Lys112Arg | |
| ENST00000589003.5:c.77A>G | ENSP00000467588.1:p.Lys26Arg | |
| ENST00000590174.5:n.80A>G | ||
| ENST00000593249.5:n.252A>G | ||
| NM_018488.2:c.335A>G | NP_060958.2:p.Lys112Arg | |
| XM_005257835.3:c.335A>G | XP_005257892.2:p.Lys112Arg | |
| XM_005257837.2:c.335A>G | XP_005257894.1:p.Lys112Arg | |
| XM_011525490.1:c.524A>G | XP_011523792.1:p.Lys175Arg | |
| XM_011525491.1:c.524A>G | XP_011523793.1:p.Lys175Arg | |
| XM_011525492.1:c.335A>G | XP_011523794.1:p.Lys112Arg | |
| XM_011525493.1:c.335A>G | XP_011523795.1:p.Lys112Arg | |
| XM_011525494.1:c.335A>G | XP_011523796.1:p.Lys112Arg | |
| XM_011525495.1:c.524A>G | XP_011523797.1:p.Lys175Arg | |
| NM_001321120.2:c.335A>G MANE Select | NP_001308049.1:p.Lys112Arg | |
| NM_018488.3:c.335A>G | NP_060958.2:p.Lys112Arg | |
| XM_011525490.2:c.524A>G | XP_011523792.1:p.Lys175Arg | |
| XM_011525491.2:c.524A>G | XP_011523793.1:p.Lys175Arg | |
| XM_011525495.2:c.524A>G | XP_011523797.1:p.Lys175Arg |