Linked Data
ClinVar Variation Id:
181522
ClinVar RCV Id:
RCV000054406
RCV000159101
RCV000207343
RCV001255602
RCV001375970
RCV001813414
RCV003398818
RCV003483526
dbSNP Id:
rs730881014
COSMIC:
COSM6058300
PubMed:
PMID:23791108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904494A>C , CM000663.2:g.155904494A>C | GRCh38 |
| NC_000001.10:g.155874285A>C , CM000663.1:g.155874285A>C | GRCh37 |
| NC_000001.9:g.154140909A>C | NCBI36 |
| NG_033885.1:g.11909T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.254T>G | ENSP00000476319.1:p.Leu85Ter | |
| ENST00000539040.6:c.138T>G | ENSP00000441950.1:p.Phe46Leu | |
| ENST00000704061.1:c.223T>G | ENSP00000515664.1:p.Tyr75Asp | |
| ENST00000368323.8:c.246T>G MANE Select | ENSP00000357306.3:p.Phe82Leu | |
| ENST00000651833.1:c.246T>G | ENSP00000498732.1:p.Phe82Leu | |
| ENST00000651853.1:c.249T>G | ENSP00000498685.1:p.Phe83Leu | |
| ENST00000368322.7:c.297T>G | ENSP00000357305.3:p.Phe99Leu | |
| ENST00000368323.7:c.246T>G | ENSP00000357306.3:p.Phe82Leu | |
| ENST00000461050.5:c.254T>G | ENSP00000476319.1:p.Leu85Ter | |
| ENST00000539040.5:c.138T>G | ENSP00000441950.1:p.Phe46Leu | |
| ENST00000609492.1:c.246T>G | ENSP00000476612.1:p.Phe82Leu | |
| NM_001256820.1:c.138T>G | NP_001243749.1:p.Phe46Leu | |
| NM_001256821.1:c.297T>G | NP_001243750.1:p.Phe99Leu | |
| NM_006912.5:c.246T>G | NP_008843.1:p.Phe82Leu | |
| NM_001256820.2:c.138T>G | NP_001243749.1:p.Phe46Leu | |
| NM_001256821.2:c.297T>G | NP_001243750.1:p.Phe99Leu | |
| NM_006912.6:c.246T>G MANE Select | NP_008843.1:p.Phe82Leu |