Linked Data
ClinVar Variation Id:
1040970
ClinVar RCV Id:
RCV001344708
dbSNP Id:
rs377252087
ExAC:
11:36597091 T / G
gnomAD v2:
11-36597091-T-G
gnomAD v3:
11-36575541-T-G
gnomAD v4:
11-36575541-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36575541T>G , CM000673.2:g.36575541T>G | GRCh38 |
| NC_000011.9:g.36597091T>G , CM000673.1:g.36597091T>G | GRCh37 |
| NC_000011.8:g.36553667T>G | NCBI36 |
| NG_007528.1:g.12529T>G , LRG_98:g.12529T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697713.1:c.2237T>G | ENSP00000513411.1:p.Phe746Cys | |
| ENST00000697714.1:c.2237T>G | ENSP00000513412.1:p.Phe746Cys | |
| ENST00000697715.1:c.2237T>G | ENSP00000513413.1:p.Phe746Cys | |
| ENST00000299440.6:c.2237T>G MANE Select | ENSP00000299440.5:p.Phe746Cys | |
| ENST00000299440.5:c.2237T>G | ENSP00000299440.5:p.Phe746Cys | |
| ENST00000534663.1:c.2237T>G | ENSP00000434610.1:p.Phe746Cys | |
| NM_000448.2:c.2237T>G , LRG_98t1:c.2237T>G | NP_000439.1:p.Phe746Cys | |
| XM_005253041.3:c.2237T>G | XP_005253098.1:p.Phe746Cys | |
| XM_011520250.1:c.2237T>G | XP_011518552.1:p.Phe746Cys | |
| XM_011520251.1:c.2237T>G | XP_011518553.1:p.Phe746Cys | |
| XM_005253041.4:c.2237T>G | XP_005253098.1:p.Phe746Cys | |
| XM_011520250.2:c.2237T>G | XP_011518552.1:p.Phe746Cys | |
| NM_000448.3:c.2237T>G MANE Select | NP_000439.2:p.Phe746Cys | |
| NM_001377277.1:c.2237T>G | NP_001364206.1:p.Phe746Cys | |
| NM_001377278.1:c.2237T>G | NP_001364207.1:p.Phe746Cys | |
| NM_001377279.1:c.2237T>G | NP_001364208.1:p.Phe746Cys | |
| NM_001377280.1:c.2237T>G | NP_001364209.1:p.Phe746Cys |