Linked Data
ClinVar Variation Id:
655578
dbSNP Id:
rs763460099
ExAC:
1:10403306 C / T
gnomAD v2:
1-10403306-C-T
gnomAD v3:
1-10343248-C-T
gnomAD v4:
1-10343248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10343248C>T , CM000663.2:g.10343248C>T | GRCh38 |
| NC_000001.10:g.10403306C>T , CM000663.1:g.10403306C>T | GRCh37 |
| NC_000001.9:g.10325893C>T | NCBI36 |
| NG_008069.1:g.137543C>T , LRG_252:g.137543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3511C>T | ENSP00000512668.1:p.Arg1171Cys | |
| ENST00000696503.1:c.3574C>T | ENSP00000512669.1:p.Arg1192Cys | |
| ENST00000696504.1:c.3574C>T | ENSP00000512670.1:p.Arg1192Cys | |
| ENST00000676179.1:c.3649C>T MANE Select | ENSP00000502065.1:p.Arg1217Cys | |
| ENST00000263934.10:c.3511C>T | ENSP00000263934.6:p.Arg1171Cys | |
| ENST00000377081.5:c.3649C>T | ENSP00000366284.1:p.Arg1217Cys | |
| ENST00000377086.5:c.3649C>T | ENSP00000366290.1:p.Arg1217Cys | |
| ENST00000620295.2:c.3607C>T | ENSP00000478500.1:p.Arg1203Cys | |
| ENST00000622724.3:c.3571C>T | ENSP00000480063.1:p.Arg1191Cys | |
| NM_015074.3:c.3511C>T , LRG_252t1:c.3511C>T | NP_055889.2:p.Arg1171Cys | |
| NM_001365951.1:c.3649C>T | NP_001352880.1:p.Arg1217Cys | |
| NM_001365952.1:c.3649C>T | NP_001352881.1:p.Arg1217Cys | |
| NM_001365951.3:c.3649C>T MANE Select | NP_001352880.1:p.Arg1217Cys |