Linked Data
ClinVar Variation Id:
757
ClinVar RCV Id:
RCV000000793
dbSNP Id:
rs115735611
ExAC:
2:233656136 A / G
gnomAD v2:
2-233656136-A-G
gnomAD v3:
2-232791426-A-G
gnomAD v4:
2-232791426-A-G
PubMed:
PMID:19449032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232791426A>G , CM000664.2:g.232791426A>G | GRCh38 |
| NC_000002.11:g.233656136A>G , CM000664.1:g.233656136A>G | GRCh37 |
| NC_000002.10:g.233364380A>G | NCBI36 |
| NG_011847.1:g.99122A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373563.9:c.1262A>G MANE Select | ENSP00000362664.5:p.Lys421Arg | |
| ENST00000676848.1:c.608A>G | ENSP00000503313.1:p.Lys203Arg | |
| ENST00000677450.1:c.743A>G | ENSP00000503420.1:p.Lys248Arg | |
| ENST00000677591.1:c.518A>G | ENSP00000503061.1:p.Lys173Arg | |
| ENST00000678230.1:c.755A>G | ENSP00000504272.1:p.Lys252Arg | |
| ENST00000678339.1:c.518A>G | ENSP00000503437.1:p.Lys173Arg | |
| ENST00000678466.1:c.518A>G | ENSP00000504219.1:p.Lys173Arg | |
| ENST00000678885.1:c.518A>G | ENSP00000503563.1:p.Lys173Arg | |
| ENST00000373563.8:c.1262A>G | ENSP00000362664.4:p.Lys421Arg | |
| ENST00000409196.7:c.1244A>G | ENSP00000387070.3:p.Lys415Arg | |
| ENST00000409451.7:c.1325A>G | ENSP00000387170.3:p.Lys442Arg | |
| ENST00000409480.5:c.1328A>G | ENSP00000386765.1:p.Lys443Arg | |
| ENST00000409547.5:c.1262A>G | ENSP00000386537.1:p.Lys421Arg | |
| ENST00000423659.5:c.1091A>G | ENSP00000404195.1:p.Lys364Arg | |
| ENST00000440945.5:c.1244A>G | ENSP00000410297.1:p.Lys415Arg | |
| ENST00000458528.1:c.*255A>G | ENSP00000389322.1:n.*255A>G | |
| ENST00000629305.2:c.1328A>G | ENSP00000487548.1:p.Lys443Arg | |
| NM_001103146.1:c.1262A>G | NP_001096616.1:p.Lys421Arg | |
| NM_001103147.1:c.1325A>G | NP_001096617.1:p.Lys442Arg | |
| NM_001103148.1:c.1244A>G | NP_001096618.1:p.Lys415Arg | |
| NM_015575.3:c.1262A>G | NP_056390.2:p.Lys421Arg | |
| NR_103492.1:n.1375A>G | ||
| NM_001103146.3:c.1262A>G MANE Select | NP_001096616.1:p.Lys421Arg | |
| NM_001103147.2:c.1325A>G | NP_001096617.1:p.Lys442Arg | |
| NM_001103148.2:c.1244A>G | NP_001096618.1:p.Lys415Arg | |
| NM_015575.4:c.1262A>G | NP_056390.2:p.Lys421Arg |