Linked Data
ClinVar Variation Id:
2233251
ClinVar RCV Id:
RCV004094243
dbSNP Id:
rs1030303402
gnomAD v3:
2-17515483-A-C
gnomAD v4:
2-17515483-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17515483A>C , CM000664.2:g.17515483A>C | GRCh38 |
| NC_000002.11:g.17696750A>C , CM000664.1:g.17696750A>C | GRCh37 |
| NC_000002.10:g.17560231A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399080.3:c.2933T>G MANE Select | ENSP00000382030.2:p.Phe978Cys | |
| ENST00000399080.2:c.2933T>G | ENSP00000382030.2:p.Phe978Cys | |
| NM_001099218.2:c.2933T>G | NP_001092688.1:p.Phe978Cys | |
| XM_005262625.1:c.2906T>G | XP_005262682.1:p.Phe969Cys | |
| XM_011533084.1:c.2933T>G | XP_011531386.1:p.Phe978Cys | |
| NM_001321233.1:c.2906T>G | NP_001308162.1:p.Phe969Cys | |
| XM_011533084.2:c.2933T>G | XP_011531386.1:p.Phe978Cys | |
| XM_024453116.1:c.2906T>G | XP_024308884.1:p.Phe969Cys | |
| XM_024453117.1:c.2906T>G | XP_024308885.1:p.Phe969Cys | |
| XM_024453118.1:c.2906T>G | XP_024308886.1:p.Phe969Cys | |
| NM_001099218.3:c.2933T>G MANE Select | NP_001092688.1:p.Phe978Cys |