Linked Data
ClinVar Variation Id:
29893
ClinVar RCV Id:
RCV000022774
dbSNP Id:
rs387906689
PubMed:
PMID:21944047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341526C>T , CM000665.2:g.122341526C>T | GRCh38 |
| NC_000003.11:g.122060373C>T , CM000665.1:g.122060373C>T | GRCh37 |
| NC_000003.10:g.123543063C>T | NCBI36 |
| NG_027995.1:g.21363C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264474.4:c.256C>T MANE Select | ENSP00000264474.3:p.Gln86Ter | |
| ENST00000264474.3:c.256C>T | ENSP00000264474.3:p.Gln86Ter | |
| NM_005213.3:c.256C>T | NP_005204.1:p.Gln86Ter | |
| NM_005213.4:c.256C>T MANE Select | NP_005204.1:p.Gln86Ter |