Linked Data
ClinVar Variation Id:
196113
dbSNP Id:
rs113002150
ExAC:
21:47551923 C / T
gnomAD v2:
21-47551923-C-T
gnomAD v3:
21-46132009-C-T
gnomAD v4:
21-46132009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132009C>T , CM000683.2:g.46132009C>T | GRCh38 |
| NC_000021.8:g.47551923C>T , CM000683.1:g.47551923C>T | GRCh37 |
| NC_000021.7:g.46376351C>T | NCBI36 |
| NG_008675.1:g.38891C>T , LRG_476:g.38891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2517C>T MANE Select | ENSP00000300527.4:p.Asp839= | |
| ENST00000300527.8:c.2517C>T | ENSP00000300527.4:p.Asp839= | |
| NM_001849.3:c.2517C>T , LRG_476t1:c.2517C>T | NP_001840.3:p.Asp839= | |
| XM_011529451.1:c.2517C>T | XP_011527753.1:p.Asp839= | |
| XM_011529452.1:c.2517C>T | XP_011527754.1:p.Asp839= | |
| XR_937438.1:n.2594C>T | ||
| XR_937438.2:n.2601C>T | ||
| NM_001849.4:c.2517C>T MANE Select | NP_001840.3:p.Asp839= |