Linked Data
ClinVar Variation Id:
10019
ClinVar RCV Id:
RCV000010702
dbSNP Id:
rs111033619
ERepo:
CA254980/MONDO:0010315/129
PubMed:
PMID:8401490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110980A>T , CM000685.2:g.71110980A>T | GRCh38 |
| NC_000023.10:g.70330830A>T , CM000685.1:g.70330830A>T | GRCh37 |
| NC_000023.9:g.70247555A>T | NCBI36 |
| NG_009088.1:g.5574T>A , LRG_150:g.5574T>A | |
| NG_021141.1:g.809T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.186T>A | ENSP00000421262.2:p.Cys62Ter | |
| ENST00000696903.1:n.237T>A | ||
| ENST00000374202.7:c.186T>A MANE Select | ENSP00000363318.3:p.Cys62Ter | |
| ENST00000642473.1:n.550T>A | ||
| ENST00000644022.1:n.592T>A | ||
| ENST00000644708.1:n.592T>A | ||
| ENST00000644911.1:n.592T>A | ||
| ENST00000645266.1:c.186T>A | ENSP00000493734.1:p.Cys62Ter | |
| ENST00000645518.1:c.186T>A | ENSP00000493986.1:p.Cys62Ter | |
| ENST00000646106.1:c.186T>A | ENSP00000496437.1:p.Cys62Ter | |
| ENST00000646505.1:c.186T>A | ENSP00000496673.1:p.Cys62Ter | |
| ENST00000647492.1:c.186T>A | ENSP00000495340.1:p.Cys62Ter | |
| ENST00000276110.6:n.571T>A | ||
| ENST00000374188.7:c.-531T>A | ENSP00000363303.3:n.-531T>A | |
| ENST00000374202.6:c.186T>A | ENSP00000363318.2:p.Cys62Ter | |
| ENST00000456850.6:c.24+445T>A | ENSP00000388967.2:n.24+445T>A | |
| ENST00000464642.5:c.54T>A | ENSP00000425233.1:p.Cys18Ter | |
| ENST00000473378.1:c.123T>A | ENSP00000423601.1:p.Cys41Ter | |
| ENST00000487883.1:c.150T>A | ENSP00000423966.1:p.Cys50Ter | |
| ENST00000512747.3:n.253T>A | ||
| NM_000206.2:c.186T>A , LRG_150t1:c.186T>A | NP_000197.1:p.Cys62Ter | |
| NM_000206.3:c.186T>A MANE Select | NP_000197.1:p.Cys62Ter |