Linked Data
ClinVar Variation Id:
18371
ClinVar RCV Id:
RCV000020039
dbSNP Id:
rs121909508
PubMed:
PMID:18398509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232526664T>C , CM000664.2:g.232526664T>C | GRCh38 |
| NC_000002.11:g.233391374T>C , CM000664.1:g.233391374T>C | GRCh37 |
| NC_000002.10:g.233099618T>C | NCBI36 |
| NG_008028.1:g.5453T>C | |
| NG_031969.1:g.11202T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258385.8:c.188T>C MANE Select | ENSP00000258385.3:p.Leu63Pro | |
| ENST00000258385.7:c.188T>C | ENSP00000258385.3:p.Leu63Pro | |
| ENST00000412233.5:c.188T>C | ENSP00000398143.1:p.Leu63Pro | |
| ENST00000441621.6:c.188T>C | ENSP00000408819.2:p.Leu63Pro | |
| ENST00000446616.1:c.188T>C | ENSP00000410801.1:p.Leu63Pro | |
| ENST00000449596.5:c.188T>C | ENSP00000404950.1:p.Leu63Pro | |
| ENST00000543200.5:c.188T>C | ENSP00000438380.1:p.Leu63Pro | |
| NM_000751.2:c.188T>C | NP_000742.1:p.Leu63Pro | |
| NM_001256657.1:c.188T>C | NP_001243586.1:p.Leu63Pro | |
| NM_001311195.1:c.-84T>C | NP_001298124.1:n.-84T>C | |
| NM_001311196.1:c.-84T>C | NP_001298125.1:n.-84T>C | |
| NR_046333.1:c.-4294967052T>C | ||
| NR_046334.1:c.-4294967052T>C | ||
| XM_011510524.1:c.-84T>C | XP_011508826.1:n.-84T>C | |
| XM_011510524.2:c.-84T>C | XP_011508826.1:n.-84T>C | |
| NM_000751.3:c.188T>C MANE Select | NP_000742.1:p.Leu63Pro | |
| NM_001311195.2:c.-84T>C | NP_001298124.1:n.-84T>C | |
| NM_001311196.2:c.-84T>C | NP_001298125.1:n.-84T>C | |
| NM_001256657.2:c.188T>C | NP_001243586.1:p.Leu63Pro |