Linked Data
ClinVar Variation Id:
2875029
ClinVar RCV Id:
RCV003714862
dbSNP Id:
rs1046879369
gnomAD v2:
4-1017683-A-G
gnomAD v3:
4-1023895-A-G
gnomAD v4:
4-1023895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1023895A>G , CM000666.2:g.1023895A>G | GRCh38 |
| NC_000004.11:g.1017683A>G , CM000666.1:g.1017683A>G | GRCh37 |
| NC_000004.10:g.1007683A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510644.6:c.512A>G MANE Select | ENSP00000425025.1:p.Lys171Arg | |
| ENST00000264748.6:c.512A>G | ENSP00000264748.6:p.Lys171Arg | |
| ENST00000398484.6:c.512A>G | ENSP00000381498.2:p.Lys171Arg | |
| ENST00000504138.5:c.512A>G | ENSP00000423091.1:p.Lys171Arg | |
| ENST00000510644.5:c.512A>G | ENSP00000425025.1:p.Lys171Arg | |
| NM_001004356.2:c.512A>G | NP_001004356.1:p.Lys171Arg | |
| NM_001004358.1:c.512A>G | NP_001004358.1:p.Lys171Arg | |
| NM_021923.3:c.512A>G | NP_068742.2:p.Lys171Arg | |
| XM_011513486.1:c.512A>G | XP_011511788.1:p.Lys171Arg | |
| XM_011513487.1:c.512A>G | XP_011511789.1:p.Lys171Arg | |
| XM_024454092.1:c.581A>G | XP_024309860.1:p.Lys194Arg | |
| XM_024454093.1:c.512A>G | XP_024309861.1:p.Lys171Arg | |
| NM_001004356.3:c.512A>G MANE Select | NP_001004356.1:p.Lys171Arg | |
| NM_001370296.1:c.512A>G | NP_001357225.1:p.Lys171Arg |