Linked Data
ClinVar Variation Id:
791
ClinVar RCV Id:
RCV000000827
dbSNP Id:
rs267606914
PubMed:
PMID:15649947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23702906A>G , CM000670.2:g.23702906A>G | GRCh38 |
| NC_000008.10:g.23560419A>G , CM000670.1:g.23560419A>G | GRCh37 |
| NC_000008.9:g.23616364A>G | NCBI36 |
| NG_030636.1:g.8693T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325017.4:c.451T>C MANE Select | ENSP00000320089.3:p.Phe151Leu | |
| ENST00000325017.3:c.451T>C | ENSP00000320089.3:p.Phe151Leu | |
| NM_001136271.2:c.451T>C | NP_001129743.2:p.Phe151Leu | |
| XR_001745842.1:n.1312+34156A>G | ||
| NM_001136271.3:c.451T>C MANE Select | NP_001129743.2:p.Phe151Leu |