Linked Data
ClinVar Variation Id:
8719
dbSNP Id:
rs104893869
gnomAD v2:
4-52896001-C-A
gnomAD v4:
4-52029835-C-A
PubMed:
PMID:9631401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029835C>A , CM000666.2:g.52029835C>A | GRCh38 |
| NC_000004.11:g.52896001C>A , CM000666.1:g.52896001C>A | GRCh37 |
| NC_000004.10:g.52590758C>A | NCBI36 |
| NG_008891.1:g.13485G>T , LRG_204:g.13485G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.272G>T MANE Select | ENSP00000370839.6:p.Arg91Leu | |
| ENST00000381431.9:c.272G>T | ENSP00000370839.5:p.Arg91Leu | |
| ENST00000506357.5:c.355G>T | ||
| ENST00000514133.1:c.349G>T | ENSP00000425818.1:n.349G>T | |
| NM_000232.4:c.272G>T , LRG_204t1:c.272G>T | NP_000223.1:p.Arg91Leu | |
| XM_006714049.2:c.-26G>T | XP_006714112.1:n.-26G>T | |
| XM_011534403.1:c.62G>T | XP_011532705.1:p.Arg21Leu | |
| XM_011534404.1:c.-26G>T | XP_011532706.1:n.-26G>T | |
| NM_000232.5:c.272G>T MANE Select | NP_000223.1:p.Arg91Leu |