Linked Data
ClinVar Variation Id:
3979
ClinVar RCV Id:
RCV000004186
dbSNP Id:
rs104894105
PubMed:
PMID:8596916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69053193T>G , CM000671.2:g.69053193T>G | GRCh38 |
| NC_000009.11:g.71668109T>G , CM000671.1:g.71668109T>G | GRCh37 |
| NC_000009.10:g.70857929T>G | NCBI36 |
| NG_008845.2:g.22631T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.92T>G | ENSP00000366482.4:p.Leu31Ter | |
| ENST00000484259.3:c.317T>G MANE Select | ENSP00000419243.2:p.Leu106Ter | |
| ENST00000642330.1:c.317T>G | ENSP00000493770.1:p.Leu106Ter | |
| ENST00000642889.1:c.165+17246T>G | ENSP00000493780.1:n.165+17246T>G | |
| ENST00000643352.1:c.317T>G | ENSP00000496488.1:p.Leu106Ter | |
| ENST00000643765.1:c.315T>G | ||
| ENST00000644653.1:c.263+6711T>G | ENSP00000495217.1:n.263+6711T>G | |
| ENST00000644977.1:c.*42T>G | ENSP00000495651.1:n.*42T>G | |
| ENST00000645088.1:c.263+6711T>G | ENSP00000495447.1:n.263+6711T>G | |
| ENST00000646862.1:c.317T>G | ENSP00000494599.1:p.Leu106Ter | |
| ENST00000377270.7:c.317T>G | ENSP00000366482.3:p.Leu106Ter | |
| ENST00000396364.7:c.317T>G | ENSP00000379650.3:p.Leu106Ter | |
| ENST00000396366.6:c.317T>G | ENSP00000379652.2:p.Leu106Ter | |
| ENST00000484259.1:c.76+6711T>G | ||
| ENST00000498653.5:c.92T>G | ENSP00000418015.1:p.Leu31Ter | |
| NM_000144.4:c.317T>G | NP_000135.2:p.Leu106Ter | |
| NM_001161706.1:c.317T>G | NP_001155178.1:p.Leu106Ter | |
| NM_181425.2:c.317T>G | NP_852090.1:p.Leu106Ter | |
| NM_000144.5:c.317T>G MANE Select | NP_000135.2:p.Leu106Ter | |
| NM_181425.3:c.317T>G | NP_852090.1:p.Leu106Ter |