Linked Data
ClinVar Variation Id:
1399544
dbSNP Id:
rs1394199064
gnomAD v2:
1-10399837-C-T
gnomAD v3:
1-10339779-C-T
gnomAD v4:
1-10339779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10339779C>T , CM000663.2:g.10339779C>T | GRCh38 |
| NC_000001.10:g.10399837C>T , CM000663.1:g.10399837C>T | GRCh37 |
| NC_000001.9:g.10322424C>T | NCBI36 |
| NG_008069.1:g.134074C>T , LRG_252:g.134074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3295C>T | ENSP00000512668.1:p.Arg1099Cys | |
| ENST00000696503.1:c.3358C>T | ENSP00000512669.1:p.Arg1120Cys | |
| ENST00000696504.1:c.3358C>T | ENSP00000512670.1:p.Arg1120Cys | |
| ENST00000676179.1:c.3433C>T MANE Select | ENSP00000502065.1:p.Arg1145Cys | |
| ENST00000263934.10:c.3295C>T | ENSP00000263934.6:p.Arg1099Cys | |
| ENST00000377081.5:c.3433C>T | ENSP00000366284.1:p.Arg1145Cys | |
| ENST00000377086.5:c.3433C>T | ENSP00000366290.1:p.Arg1145Cys | |
| ENST00000620295.2:c.3391C>T | ENSP00000478500.1:p.Arg1131Cys | |
| ENST00000622724.3:c.3355C>T | ENSP00000480063.1:p.Arg1119Cys | |
| NM_015074.3:c.3295C>T , LRG_252t1:c.3295C>T | NP_055889.2:p.Arg1099Cys | |
| NM_001365951.1:c.3433C>T | NP_001352880.1:p.Arg1145Cys | |
| NM_001365952.1:c.3433C>T | NP_001352881.1:p.Arg1145Cys | |
| NM_001365951.3:c.3433C>T MANE Select | NP_001352880.1:p.Arg1145Cys |