Linked Data
ClinVar Variation Id:
2244139
ClinVar RCV Id:
RCV002757421
dbSNP Id:
rs1658480627
gnomAD v4:
1-224189629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.224189629G>C , CM000663.2:g.224189629G>C | GRCh38 |
| NC_000001.10:g.224377331G>C , CM000663.1:g.224377331G>C | GRCh37 |
| NC_000001.9:g.222443954G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323699.9:c.135G>C MANE Select | ENSP00000316476.4:p.Trp45Cys | |
| ENST00000323699.8:c.135G>C | ENSP00000316476.4:p.Trp45Cys | |
| ENST00000391877.3:c.135G>C | ENSP00000375749.3:p.Trp45Cys | |
| ENST00000415210.5:c.72G>C | ENSP00000400545.1:p.Trp24Cys | |
| ENST00000465848.1:n.210G>C | ||
| NM_003676.3:c.135G>C | NP_003667.1:p.Trp45Cys | |
| XM_011544317.1:c.135G>C | XP_011542619.1:p.Trp45Cys | |
| XM_011544318.1:c.27G>C | XP_011542620.1:p.Trp9Cys | |
| NM_001321541.1:c.135G>C | NP_001308470.1:p.Trp45Cys | |
| NM_001321542.1:c.27G>C | NP_001308471.1:p.Trp9Cys | |
| XM_017002648.2:c.27G>C | XP_016858137.1:p.Trp9Cys | |
| NM_003676.4:c.135G>C MANE Select | NP_003667.1:p.Trp45Cys | |
| NM_001321541.2:c.135G>C | NP_001308470.1:p.Trp45Cys | |
| NM_001321542.2:c.27G>C | NP_001308471.1:p.Trp9Cys |