Linked Data
ClinVar Variation Id:
288799
dbSNP Id:
rs373392391
ExAC:
21:47552452 C / T
gnomAD v2:
21-47552452-C-T
gnomAD v3:
21-46132538-C-T
gnomAD v4:
21-46132538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132538C>T , CM000683.2:g.46132538C>T | GRCh38 |
| NC_000021.8:g.47552452C>T , CM000683.1:g.47552452C>T | GRCh37 |
| NC_000021.7:g.46376880C>T | NCBI36 |
| NG_008675.1:g.39420C>T , LRG_476:g.39420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.3046C>T MANE Select | ENSP00000300527.4:p.Arg1016Cys | |
| ENST00000300527.8:c.3046C>T | ENSP00000300527.4:p.Arg1016Cys | |
| NM_001849.3:c.3046C>T , LRG_476t1:c.3046C>T | NP_001840.3:p.Arg1016Cys | |
| XM_011529451.1:c.3046C>T | XP_011527753.1:p.Arg1016Cys | |
| XM_011529452.1:c.3046C>T | XP_011527754.1:p.Arg1016Cys | |
| XR_937438.1:n.3123C>T | ||
| XR_937438.2:n.3130C>T | ||
| NM_001849.4:c.3046C>T MANE Select | NP_001840.3:p.Arg1016Cys |