Linked Data
ClinVar Variation Id:
968664
dbSNP Id:
rs767383120
gnomAD v2:
X-70327620-G-A
gnomAD v3:
X-71107770-G-A
gnomAD v4:
X-71107770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71107770G>A , CM000685.2:g.71107770G>A | GRCh38 |
| NC_000023.10:g.70327620G>A , CM000685.1:g.70327620G>A | GRCh37 |
| NC_000023.9:g.70244345G>A | NCBI36 |
| NG_009088.1:g.8784C>T , LRG_150:g.8784C>T | |
| NG_021141.1:g.4019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.*196C>T | ENSP00000421262.2:n.*196C>T | |
| ENST00000696903.1:n.1379C>T | ||
| ENST00000374202.7:c.1076C>T MANE Select | ENSP00000363318.3:p.Ala359Val | |
| ENST00000642473.1:n.1288+507C>T | ||
| ENST00000644022.1:n.1190+507C>T | ||
| ENST00000644708.1:n.1302+83C>T | ||
| ENST00000644911.1:n.1399+83C>T | ||
| ENST00000645266.1:c.924+507C>T | ENSP00000493734.1:n.924+507C>T | |
| ENST00000645518.1:c.924+507C>T | ENSP00000493986.1:n.924+507C>T | |
| ENST00000646106.1:c.993+83C>T | ENSP00000496437.1:n.993+83C>T | |
| ENST00000646505.1:c.924+507C>T | ENSP00000496673.1:n.924+507C>T | |
| ENST00000647492.1:c.924+507C>T | ENSP00000495340.1:n.924+507C>T | |
| ENST00000276110.6:n.1669C>T | ||
| ENST00000374188.7:c.263C>T | ENSP00000363303.3:p.Ala88Val | |
| ENST00000374202.6:c.1076C>T | ENSP00000363318.2:p.Ala359Val | |
| ENST00000456850.6:c.506C>T | ENSP00000388967.2:p.Ala169Val | |
| ENST00000482750.5:c.392C>T | ||
| ENST00000512747.3:n.1610C>T | ||
| NM_000206.2:c.1076C>T , LRG_150t1:c.1076C>T | NP_000197.1:p.Ala359Val | |
| NM_000206.3:c.1076C>T MANE Select | NP_000197.1:p.Ala359Val |