Linked Data
ClinVar Variation Id:
8328
ClinVar RCV Id:
RCV000008830
dbSNP Id:
rs104893699
PubMed:
PMID:9253358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284272T>G , CM000665.2:g.122284272T>G | GRCh38 |
| NC_000003.11:g.122003119T>G , CM000665.1:g.122003119T>G | GRCh37 |
| NC_000003.10:g.123485809T>G | NCBI36 |
| NG_009058.1:g.105590T>G | |
| NG_009058.2:g.105605T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.2087T>G | ENSP00000418685.2:p.Leu696Arg | |
| ENST00000498619.4:c.2348T>G | ENSP00000420194.1:p.Leu783Arg | |
| ENST00000638421.1:c.2318T>G | ENSP00000492190.1:p.Leu773Arg | |
| ENST00000639785.2:c.2318T>G MANE Select | ENSP00000491584.2:p.Leu773Arg | |
| ENST00000490131.5:c.2318T>G | ENSP00000418685.1:p.Leu773Arg | |
| ENST00000498619.2:c.2348T>G | ENSP00000420194.1:p.Leu783Arg | |
| NM_000388.3:c.2318T>G | NP_000379.2:p.Leu773Arg | |
| NM_001178065.1:c.2348T>G | NP_001171536.1:p.Leu783Arg | |
| XM_005247836.2:c.2318T>G | XP_005247893.1:p.Leu773Arg | |
| XM_005247837.2:c.1835T>G | XP_005247894.1:p.Leu612Arg | |
| XM_006713789.2:c.2318T>G | XP_006713852.1:p.Leu773Arg | |
| XM_011513237.1:c.2318T>G | XP_011511539.1:p.Leu773Arg | |
| XM_011513238.1:c.2318T>G | XP_011511540.1:p.Leu773Arg | |
| XM_011513239.1:c.1730T>G | XP_011511541.1:p.Leu577Arg | |
| XM_006713789.3:c.2318T>G | XP_006713852.1:p.Leu773Arg | |
| XM_017007324.1:c.2318T>G | XP_016862813.1:p.Leu773Arg | |
| XM_017007325.1:c.2318T>G | XP_016862814.1:p.Leu773Arg | |
| NM_000388.4:c.2318T>G MANE Select | NP_000379.3:p.Leu773Arg | |
| NM_001178065.2:c.2348T>G | NP_001171536.2:p.Leu783Arg |