Linked Data
ClinVar Variation Id:
35520
dbSNP Id:
rs387907222
ExAC:
4:56277949 C / T
gnomAD v2:
4-56277949-C-T
gnomAD v3:
4-55411782-C-T
gnomAD v4:
4-55411782-C-T
PubMed:
PMID:22683087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55411782C>T , CM000666.2:g.55411782C>T | GRCh38 |
| NC_000004.11:g.56277949C>T , CM000666.1:g.56277949C>T | GRCh37 |
| NC_000004.10:g.55972706C>T | NCBI36 |
| NG_032881.1:g.20870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.376C>T MANE Select | ENSP00000370736.5:p.Arg126Cys | |
| ENST00000381334.9:c.376C>T | ENSP00000370736.5:p.Arg126Cys | |
| ENST00000502797.1:n.265C>T | ||
| ENST00000506198.5:c.208-12756C>T | ENSP00000425449.1:n.208-12756C>T | |
| ENST00000508404.5:c.*248C>T | ENSP00000422639.1:n.*248C>T | |
| ENST00000511710.1:n.500C>T | ||
| NM_018475.4:c.376C>T | NP_060945.2:p.Arg126Cys | |
| NR_073070.1:n.756C>T | ||
| XM_011534394.1:c.376C>T | XP_011532696.1:p.Arg126Cys | |
| XM_011534394.3:c.376C>T | XP_011532696.1:p.Arg126Cys | |
| XM_017008412.1:c.187C>T | XP_016863901.1:p.Arg63Cys | |
| XR_001741287.2:n.913C>T | ||
| NM_018475.5:c.376C>T MANE Select | NP_060945.2:p.Arg126Cys | |
| NR_073070.2:n.712C>T |