Linked Data
ClinVar Variation Id:
13765
ClinVar RCV Id:
RCV000014775
dbSNP Id:
rs104893939
gnomAD v4:
5-147831537-A-C
PubMed:
PMID:17274009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831537A>C , CM000667.2:g.147831537A>C | GRCh38 |
| NC_000005.9:g.147211100A>C , CM000667.1:g.147211100A>C | GRCh37 |
| NC_000005.8:g.147191293A>C | NCBI36 |
| NG_008356.2:g.12695T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.41T>G MANE Select | ENSP00000296695.5:p.Leu14Arg | |
| ENST00000296695.9:c.41T>G | ENSP00000296695.5:p.Leu14Arg | |
| ENST00000510027.2:c.41T>G | ENSP00000427376.1:p.Leu14Arg | |
| NM_003122.4:c.41T>G | NP_003113.2:p.Leu14Arg | |
| NM_001354966.1:c.41T>G | NP_001341895.1:p.Leu14Arg | |
| NM_001354966.2:c.41T>G | NP_001341895.1:p.Leu14Arg | |
| NM_001379610.1:c.41T>G MANE Select | NP_001366539.1:p.Leu14Arg | |
| NM_003122.5:c.41T>G | NP_003113.2:p.Leu14Arg |