Linked Data
ClinVar Variation Id:
11070
ClinVar RCV Id:
RCV000011819
dbSNP Id:
rs132630301
PubMed:
PMID:12415272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134377639A>T , CM000685.2:g.134377639A>T | GRCh38 |
| NC_000023.10:g.133511669A>T , CM000685.1:g.133511669A>T | GRCh37 |
| NC_000023.9:g.133339335A>T | NCBI36 |
| NG_008886.1:g.9328A>T , LRG_629:g.9328A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685047.1:c.22A>T | ENSP00000509894.1:p.Lys8Ter | |
| ENST00000685553.1:c.22A>T | ENSP00000510193.1:p.Lys8Ter | |
| ENST00000687496.1:c.22A>T | ENSP00000509551.1:p.Lys8Ter | |
| ENST00000687834.1:n.195A>T | ||
| ENST00000688598.1:c.22A>T | ENSP00000510410.1:p.Lys8Ter | |
| ENST00000691812.1:c.22A>T | ENSP00000510211.1:p.Lys8Ter | |
| ENST00000693759.1:c.22A>T | ENSP00000509518.1:p.Lys8Ter | |
| ENST00000370803.8:c.22A>T MANE Select | ENSP00000359839.4:p.Lys8Ter | |
| ENST00000332070.7:c.22A>T | ENSP00000329097.3:p.Lys8Ter | |
| ENST00000370799.5:c.22A>T | ENSP00000359835.1:p.Lys8Ter | |
| ENST00000370800.4:c.22A>T | ENSP00000359836.4:p.Lys8Ter | |
| ENST00000370803.7:c.22A>T | ENSP00000359839.3:p.Lys8Ter | |
| ENST00000625464.2:c.22A>T | ENSP00000487420.1:p.Lys8Ter | |
| NM_001015877.1:c.22A>T , LRG_629t1:c.22A>T | NP_001015877.1:p.Lys8Ter | |
| NM_032335.3:c.22A>T , LRG_629t2:c.22A>T | NP_115711.2:p.Lys8Ter | |
| NM_032458.2:c.22A>T | NP_115834.1:p.Lys8Ter | |
| NM_001015877.2:c.22A>T MANE Select | NP_001015877.1:p.Lys8Ter | |
| NM_032458.3:c.22A>T | NP_115834.1:p.Lys8Ter |