Linked Data
ClinVar Variation Id:
14862
dbSNP Id:
rs121912545
ExAC:
14:74726404 C / T
gnomAD v2:
14-74726404-C-T
gnomAD v3:
14-74259701-C-T
gnomAD v4:
14-74259701-C-T
PubMed:
PMID:15257456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259701C>T , CM000676.2:g.74259701C>T | GRCh38 |
| NC_000014.8:g.74726404C>T , CM000676.1:g.74726404C>T | GRCh37 |
| NC_000014.7:g.73796157C>T | NCBI36 |
| NG_013092.1:g.25230C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261980.3:c.679C>T MANE Select | ENSP00000261980.2:p.Arg227Trp | |
| ENST00000261980.2:c.679C>T | ENSP00000261980.2:p.Arg227Trp | |
| NM_182894.2:c.679C>T | NP_878314.1:p.Arg227Trp | |
| XM_011536719.1:c.679C>T | XP_011535021.1:p.Arg227Trp | |
| NM_182894.3:c.679C>T MANE Select | NP_878314.1:p.Arg227Trp |