Linked Data
ClinVar Variation Id:
68446
ClinVar RCV Id:
RCV000059316
dbSNP Id:
rs397515620
PubMed:
PMID:24011989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153720968G>A , CM000685.2:g.153720968G>A | GRCh38 |
| NC_000023.10:g.152986423G>A , CM000685.1:g.152986423G>A | GRCh37 |
| NC_000023.9:g.152639617G>A | NCBI36 |
| NG_009022.2:g.1101G>A | |
| NG_023231.1:g.8779C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345046.12:c.97C>T MANE Select | ENSP00000343458.6:p.Gln33Ter | |
| ENST00000458587.8:c.298C>T | ENSP00000392330.2:p.Gln100Ter | |
| ENST00000645377.1:c.97C>T | ENSP00000494936.1:p.Gln33Ter | |
| ENST00000645802.1:n.204C>T | ||
| ENST00000647529.1:c.97C>T | ENSP00000494052.1:p.Gln33Ter | |
| ENST00000672675.1:c.97C>T | ENSP00000499882.1:p.Gln33Ter | |
| ENST00000345046.10:c.97C>T | ENSP00000343458.6:p.Gln33Ter | |
| ENST00000416815.5:c.97C>T | ENSP00000394270.1:p.Gln33Ter | |
| ENST00000423827.5:c.97C>T | ENSP00000389740.1:p.Gln33Ter | |
| ENST00000429550.5:c.97C>T | ENSP00000409888.1:p.Gln33Ter | |
| ENST00000430088.1:c.97C>T | ENSP00000402342.1:p.Gln33Ter | |
| ENST00000442093.5:c.97C>T | ENSP00000400345.1:p.Gln33Ter | |
| ENST00000458587.6:c.298C>T | ENSP00000392330.2:p.Gln100Ter | |
| ENST00000468947.1:n.190C>T | ||
| NM_001139441.1:c.97C>T | NP_001132913.1:p.Gln33Ter | |
| NM_001139457.2:c.298C>T | NP_001132929.1:p.Gln100Ter | |
| NM_001256447.1:c.97C>T | NP_001243376.1:p.Gln33Ter | |
| NM_005745.7:c.97C>T | NP_005736.3:p.Gln33Ter | |
| XR_002958758.1:n.728C>T | ||
| XR_002958759.1:n.554C>T | ||
| XR_002958760.1:n.319C>T | ||
| XR_002958761.1:n.253C>T | ||
| NM_001256447.2:c.97C>T MANE Select | NP_001243376.1:p.Gln33Ter | |
| NM_005745.8:c.97C>T | NP_005736.3:p.Gln33Ter |