Linked Data
ClinVar Variation Id:
10018
ClinVar RCV Id:
RCV000010701
dbSNP Id:
rs137852509
gnomAD v4:
X-71108278-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71108278G>T , CM000685.2:g.71108278G>T | GRCh38 |
| NC_000023.10:g.70328128G>T , CM000685.1:g.70328128G>T | GRCh37 |
| NC_000023.9:g.70244853G>T | NCBI36 |
| NG_009088.1:g.8276C>A , LRG_150:g.8276C>A | |
| NG_021141.1:g.3511C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482750.6:c.*43C>A | ENSP00000421262.2:n.*43C>A | |
| ENST00000696903.1:n.1226C>A | ||
| ENST00000374202.7:c.923C>A MANE Select | ENSP00000363318.3:p.Ser308Ter | |
| ENST00000642473.1:n.1287C>A | ||
| ENST00000644022.1:n.1189C>A | ||
| ENST00000644708.1:n.1232C>A | ||
| ENST00000644911.1:n.1329C>A | ||
| ENST00000645266.1:c.923C>A | ENSP00000493734.1:p.Ser308Ter | |
| ENST00000645518.1:c.923C>A | ENSP00000493986.1:p.Ser308Ter | |
| ENST00000646106.1:c.923C>A | ENSP00000496437.1:p.Ser308Ter | |
| ENST00000646505.1:c.923C>A | ENSP00000496673.1:p.Ser308Ter | |
| ENST00000647492.1:c.923C>A | ENSP00000495340.1:p.Ser308Ter | |
| ENST00000276110.6:n.1516C>A | ||
| ENST00000374188.7:c.110C>A | ENSP00000363303.3:p.Ser37Ter | |
| ENST00000374202.6:c.923C>A | ENSP00000363318.2:p.Ser308Ter | |
| ENST00000456850.6:c.353C>A | ENSP00000388967.2:p.Ser118Ter | |
| ENST00000482750.5:c.239C>A | ||
| ENST00000512747.3:n.1102C>A | ||
| NM_000206.2:c.923C>A , LRG_150t1:c.923C>A | NP_000197.1:p.Ser308Ter | |
| NM_000206.3:c.923C>A MANE Select | NP_000197.1:p.Ser308Ter |