Linked Data
ClinVar Variation Id:
64677
ClinVar RCV Id:
RCV000054828
dbSNP Id:
rs397514763
PubMed:
PMID:23579497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39408644C>T , CM000665.2:g.39408644C>T | GRCh38 |
| NC_000003.11:g.39450135C>T , CM000665.1:g.39450135C>T | GRCh37 |
| NC_000003.10:g.39425139C>T | NCBI36 |
| NG_033234.1:g.6932C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458478.6:c.172C>T | ENSP00000410848.2:p.Leu58Phe | |
| ENST00000478027.3:n.722C>T | ||
| ENST00000697728.1:c.172C>T | ENSP00000513422.1:p.Leu58Phe | |
| ENST00000697729.1:c.172C>T | ENSP00000513423.1:p.Leu58Phe | |
| ENST00000697730.1:c.172C>T | ENSP00000513424.1:p.Leu58Phe | |
| ENST00000697731.1:c.172C>T | ENSP00000513425.1:p.Leu58Phe | |
| ENST00000697732.1:n.160C>T | ||
| ENST00000697753.1:c.172C>T | ENSP00000513432.1:p.Leu58Phe | |
| ENST00000697816.1:c.*69C>T | ENSP00000513451.1:n.*69C>T | |
| ENST00000301821.11:c.172C>T MANE Select | ENSP00000346067.4:p.Leu58Phe | |
| ENST00000301821.10:c.172C>T | ENSP00000346067.4:p.Leu58Phe | |
| ENST00000443003.2:c.172C>T | ENSP00000389351.1:p.Leu58Phe | |
| ENST00000444512.2:c.172C>T | ENSP00000396716.2:p.Leu58Phe | |
| ENST00000458478.5:c.172C>T | ENSP00000410848.1:p.Leu58Phe | |
| ENST00000477325.1:n.254C>T | ||
| ENST00000478027.2:n.441C>T | ||
| NM_001304288.1:c.172C>T | NP_001291217.1:p.Leu58Phe | |
| NM_002295.5:c.172C>T | NP_002286.2:p.Leu58Phe | |
| NM_002295.6:c.172C>T MANE Select | NP_002286.2:p.Leu58Phe | |
| NM_001304288.2:c.172C>T | NP_001291217.1:p.Leu58Phe |