Linked Data
ClinVar Variation Id:
2079766
ClinVar RCV Id:
RCV002998772
dbSNP Id:
rs756679254
ExAC:
11:36594940 A / G
gnomAD v2:
11-36594940-A-G
gnomAD v4:
11-36573390-A-G
ERepo:
CA5949900/MONDO:0000572/123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36573390A>G , CM000673.2:g.36573390A>G | GRCh38 |
| NC_000011.9:g.36594940A>G , CM000673.1:g.36594940A>G | GRCh37 |
| NC_000011.8:g.36551516A>G | NCBI36 |
| NG_007528.1:g.10378A>G , LRG_98:g.10378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.86A>G | ENSP00000513411.1:p.Lys29Arg | |
| ENST00000697714.1:c.86A>G | ENSP00000513412.1:p.Lys29Arg | |
| ENST00000697715.1:c.86A>G | ENSP00000513413.1:p.Lys29Arg | |
| ENST00000299440.6:c.86A>G MANE Select | ENSP00000299440.5:p.Lys29Arg | |
| ENST00000299440.5:c.86A>G | ENSP00000299440.5:p.Lys29Arg | |
| ENST00000534663.1:c.86A>G | ENSP00000434610.1:p.Lys29Arg | |
| NM_000448.2:c.86A>G , LRG_98t1:c.86A>G | NP_000439.1:p.Lys29Arg | |
| XM_005253041.3:c.86A>G | XP_005253098.1:p.Lys29Arg | |
| XM_011520250.1:c.86A>G | XP_011518552.1:p.Lys29Arg | |
| XM_011520251.1:c.86A>G | XP_011518553.1:p.Lys29Arg | |
| XM_005253041.4:c.86A>G | XP_005253098.1:p.Lys29Arg | |
| XM_011520250.2:c.86A>G | XP_011518552.1:p.Lys29Arg | |
| NM_000448.3:c.86A>G MANE Select | NP_000439.2:p.Lys29Arg | |
| NM_001377277.1:c.86A>G | NP_001364206.1:p.Lys29Arg | |
| NM_001377278.1:c.86A>G | NP_001364207.1:p.Lys29Arg | |
| NM_001377279.1:c.86A>G | NP_001364208.1:p.Lys29Arg | |
| NM_001377280.1:c.86A>G | NP_001364209.1:p.Lys29Arg |