Linked Data
ClinVar Variation Id:
8717
ClinVar RCV Id:
RCV000009255
dbSNP Id:
rs104893870
PubMed:
PMID:8968749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029784A>C , CM000666.2:g.52029784A>C | GRCh38 |
| NC_000004.11:g.52895950A>C , CM000666.1:g.52895950A>C | GRCh37 |
| NC_000004.10:g.52590707A>C | NCBI36 |
| NG_008891.1:g.13536T>G , LRG_204:g.13536T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.323T>G MANE Select | ENSP00000370839.6:p.Leu108Arg | |
| ENST00000381431.9:c.323T>G | ENSP00000370839.5:p.Leu108Arg | |
| ENST00000506357.5:c.406T>G | ||
| ENST00000514133.1:c.400T>G | ENSP00000425818.1:n.400T>G | |
| NM_000232.4:c.323T>G , LRG_204t1:c.323T>G | NP_000223.1:p.Leu108Arg | |
| XM_006714049.2:c.26T>G | XP_006714112.1:p.Leu9Arg | |
| XM_011534403.1:c.113T>G | XP_011532705.1:p.Leu38Arg | |
| XM_011534404.1:c.26T>G | XP_011532706.1:p.Leu9Arg | |
| NM_000232.5:c.323T>G MANE Select | NP_000223.1:p.Leu108Arg |