Linked Data
ClinVar Variation Id:
97204
ClinVar RCV Id:
RCV000083442
dbSNP Id:
rs66741318
PubMed:
PMID:9590019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401332G>T , CM000685.2:g.38401332G>T | GRCh38 |
| NC_000023.10:g.38260585G>T , CM000685.1:g.38260585G>T | GRCh37 |
| NC_000023.9:g.38145529G>T | NCBI36 |
| NG_008471.1:g.53850G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.444G>T MANE Select | ENSP00000039007.4:p.Leu148Phe | |
| ENST00000643344.1:c.*194G>T | ENSP00000496606.1:n.*194G>T | |
| ENST00000039007.4:c.444G>T | ENSP00000039007.4:p.Leu148Phe | |
| ENST00000465127.1:c.172-264789G>T | ENSP00000417050.1:n.172-264789G>T | |
| ENST00000488812.1:n.481G>T | ||
| NM_000531.5:c.444G>T | NP_000522.3:p.Leu148Phe | |
| XM_017029556.1:c.444G>T | XP_016885045.1:p.Leu148Phe | |
| NM_000531.6:c.444G>T MANE Select | NP_000522.3:p.Leu148Phe |