Linked Data
ClinVar Variation Id:
56433
ClinVar RCV Id:
RCV000049846
dbSNP Id:
rs386833875
PubMed:
PMID:11317351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848318C>A , CM000681.2:g.35848318C>A | GRCh38 |
| NC_000019.9:g.36339220C>A , CM000681.1:g.36339220C>A | GRCh37 |
| NC_000019.8:g.41031060C>A | NCBI36 |
| NG_013356.2:g.25970G>T , LRG_693:g.25970G>T | |
| NG_051206.1:g.1684C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1250G>T MANE Select | ENSP00000368190.4:p.Cys417Phe | |
| ENST00000353632.6:c.1250G>T | ENSP00000343634.5:p.Cys417Phe | |
| ENST00000378910.9:c.1250G>T | ENSP00000368190.4:p.Cys417Phe | |
| ENST00000592132.1:n.257G>T | ||
| NM_004646.3:c.1250G>T , LRG_693t1:c.1250G>T | NP_004637.1:p.Cys417Phe | |
| NM_004646.4:c.1250G>T MANE Select | NP_004637.1:p.Cys417Phe |