Linked Data
ClinVar Variation Id:
67614
ClinVar RCV Id:
RCV000058367
RCV000148522
RCV000170957
RCV000781484
RCV001246221
RCV002444517
RCV002477193
dbSNP Id:
rs141423405
ExAC:
21:35743006 C / T
gnomAD v2:
21-35743006-C-T
gnomAD v3:
21-34370707-C-T
gnomAD v4:
21-34370707-C-T
COSMIC:
COSM1030436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370707C>T , CM000683.2:g.34370707C>T | GRCh38 |
| NC_000021.8:g.35743006C>T , CM000683.1:g.35743006C>T | GRCh37 |
| NC_000021.7:g.34664876C>T | NCBI36 |
| NG_008804.1:g.11684C>T , LRG_291:g.11684C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.229C>T MANE Select | ENSP00000290310.2:p.Arg77Trp | |
| ENST00000290310.3:c.229C>T | ENSP00000290310.2:p.Arg77Trp | |
| NM_172201.1:c.229C>T , LRG_291t1:c.229C>T | NP_751951.1:p.Arg77Trp | |
| XR_937683.1:n.614G>A | ||
| XR_937684.1:n.614G>A | ||
| XR_001755012.2:n.735G>A | ||
| XR_001755013.2:n.614G>A | ||
| XR_937683.2:n.614G>A | ||
| NM_172201.2:c.229C>T MANE Select | NP_751951.1:p.Arg77Trp |