Linked Data
ClinVar Variation Id:
39818
ClinVar RCV Id:
RCV000033039
dbSNP Id:
rs397514607
gnomAD v4:
11-17612638-C-T
PubMed:
PMID:23122587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612638C>T , CM000673.2:g.17612638C>T | GRCh38 |
| NC_000011.9:g.17634185C>T , CM000673.1:g.17634185C>T | GRCh37 |
| NC_000011.8:g.17590761C>T | NCBI36 |
| NG_033191.1:g.70266C>T | |
| NG_033191.2:g.70266C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.6347C>T | ENSP00000382323.2:p.Pro2116Leu | |
| ENST00000399397.6:c.6311C>T MANE Select | ENSP00000382329.2:p.Pro2104Leu | |
| ENST00000342528.2:c.3365C>T | ENSP00000341666.2:p.Pro1122Leu | |
| ENST00000399391.6:c.6347C>T | ENSP00000382323.2:p.Pro2116Leu | |
| ENST00000399397.5:c.6311C>T | ENSP00000382329.2:p.Pro2104Leu | |
| NM_001277269.1:c.6347C>T | NP_001264198.1:p.Pro2116Leu | |
| NM_001292063.1:c.6311C>T | NP_001278992.1:p.Pro2104Leu | |
| NM_001277269.2:c.6347C>T | NP_001264198.1:p.Pro2116Leu | |
| NM_001292063.2:c.6311C>T MANE Select | NP_001278992.1:p.Pro2104Leu |