Linked Data
ClinVar Variation Id:
17154
ClinVar RCV Id:
RCV000018694
dbSNP Id:
rs121434555
PubMed:
PMID:17886299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237367010A>C , CM000664.2:g.237367010A>C | GRCh38 |
| NC_000002.11:g.238275653A>C , CM000664.1:g.238275653A>C | GRCh37 |
| NC_000002.10:g.237940392A>C | NCBI36 |
| NG_008676.1:g.52198T>G , LRG_473:g.52198T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353578.9:c.4559T>G | ENSP00000315873.4:p.Leu1520Arg | |
| ENST00000295550.9:c.5177T>G MANE Select | ENSP00000295550.4:p.Leu1726Arg | |
| ENST00000295550.8:c.5177T>G | ENSP00000295550.4:p.Leu1726Arg | |
| ENST00000347401.7:c.3356T>G | ENSP00000315609.4:p.Leu1119Arg | |
| ENST00000353578.8:c.4559T>G | ENSP00000315873.4:p.Leu1520Arg | |
| ENST00000409809.5:c.4559T>G | ENSP00000386844.1:p.Leu1520Arg | |
| ENST00000472056.5:c.3356T>G | ENSP00000418285.1:p.Leu1119Arg | |
| NM_004369.3:c.5177T>G , LRG_473t1:c.5177T>G | NP_004360.2:p.Leu1726Arg | |
| NM_057166.4:c.3356T>G | NP_476507.3:p.Leu1119Arg | |
| NM_057167.3:c.4559T>G | NP_476508.2:p.Leu1520Arg | |
| XM_005246065.1:c.4577T>G | XP_005246122.1:p.Leu1526Arg | |
| XM_005246066.1:c.3956T>G | XP_005246123.1:p.Leu1319Arg | |
| XM_006712253.1:c.4676T>G | XP_006712316.1:p.Leu1559Arg | |
| XM_011510574.1:c.5174T>G | XP_011508876.1:p.Leu1725Arg | |
| XM_011510575.1:c.2771T>G | XP_011508877.1:p.Leu924Arg | |
| XM_017003304.1:c.2771T>G | XP_016858793.1:p.Leu924Arg | |
| XM_024452684.1:c.3956T>G | XP_024308452.1:p.Leu1319Arg | |
| NM_004369.4:c.5177T>G MANE Select | NP_004360.2:p.Leu1726Arg | |
| NM_057166.5:c.3356T>G | NP_476507.3:p.Leu1119Arg | |
| NM_057167.4:c.4559T>G | NP_476508.2:p.Leu1520Arg |