Linked Data
ClinVar Variation Id:
10084
ClinVar RCV Id:
RCV000010796
dbSNP Id:
rs137852506
PubMed:
PMID:11891689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475239C>T , CM000685.2:g.134475239C>T | GRCh38 |
| NC_000023.10:g.133609269C>T , CM000685.1:g.133609269C>T | GRCh37 |
| NC_000023.9:g.133436935C>T | NCBI36 |
| NG_012329.1:g.20095C>T | |
| NG_012329.2:g.20095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298556.8:c.193C>T MANE Select | ENSP00000298556.7:p.Leu65Phe | |
| ENST00000298556.7:c.193C>T | ENSP00000298556.7:p.Leu65Phe | |
| ENST00000462974.5:n.351C>T | ||
| ENST00000475720.1:n.151C>T | ||
| NM_000194.2:c.193C>T | NP_000185.1:p.Leu65Phe | |
| XM_011531328.1:c.211C>T | XP_011529630.1:p.Leu71Phe | |
| NM_000194.3:c.193C>T MANE Select | NP_000185.1:p.Leu65Phe |