Linked Data
ClinVar Variation Id:
9852
ClinVar RCV Id:
RCV000010526
dbSNP Id:
rs137852595
PubMed:
PMID:9360511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711653C>T , CM000685.2:g.67711653C>T | GRCh38 |
| NC_000023.10:g.66931495C>T , CM000685.1:g.66931495C>T | GRCh37 |
| NC_000023.9:g.66848220C>T | NCBI36 |
| NG_009014.2:g.172622C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*485C>T | ENSP00000379358.4:n.*485C>T | |
| ENST00000374690.9:c.2137C>T MANE Select | ENSP00000363822.3:p.Leu713Phe | |
| ENST00000396043.3:c.764C>T | ENSP00000379358.3:n.764C>T | |
| ENST00000396044.8:c.2137C>T | ENSP00000379359.3:p.Leu713Phe | |
| ENST00000612452.5:c.2137C>T | ENSP00000484033.2:p.Leu713Phe | |
| ENST00000374690.7:c.2137C>T | ENSP00000363822.3:p.Leu713Phe | |
| ENST00000396043.2:c.541C>T | ENSP00000379358.2:p.Leu181Phe | |
| ENST00000396044.7:c.2137C>T | ENSP00000379359.3:p.Leu713Phe | |
| ENST00000612452.4:c.1567C>T | ENSP00000484033.1:p.Leu523Phe | |
| NM_000044.3:c.2137C>T | NP_000035.2:p.Leu713Phe | |
| NM_001011645.2:c.541C>T | NP_001011645.1:p.Leu181Phe | |
| NM_000044.4:c.2137C>T | NP_000035.2:p.Leu713Phe | |
| NM_001011645.3:c.541C>T | NP_001011645.1:p.Leu181Phe | |
| NM_000044.6:c.2137C>T MANE Select | NP_000035.2:p.Leu713Phe |