Linked Data
ClinVar Variation Id:
8338
ClinVar RCV Id:
RCV000008840
dbSNP Id:
rs104893703
PubMed:
PMID:10487661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122283800C>G , CM000665.2:g.122283800C>G | GRCh38 |
| NC_000003.11:g.122002647C>G , CM000665.1:g.122002647C>G | GRCh37 |
| NC_000003.10:g.123485337C>G | NCBI36 |
| NG_009058.1:g.105118C>G | |
| NG_009058.2:g.105133C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.1615C>G | ENSP00000418685.2:p.Leu539Val | |
| ENST00000498619.4:c.1876C>G | ENSP00000420194.1:p.Leu626Val | |
| ENST00000638421.1:c.1846C>G | ENSP00000492190.1:p.Leu616Val | |
| ENST00000639785.2:c.1846C>G MANE Select | ENSP00000491584.2:p.Leu616Val | |
| ENST00000490131.5:c.1846C>G | ENSP00000418685.1:p.Leu616Val | |
| ENST00000498619.2:c.1876C>G | ENSP00000420194.1:p.Leu626Val | |
| NM_000388.3:c.1846C>G | NP_000379.2:p.Leu616Val | |
| NM_001178065.1:c.1876C>G | NP_001171536.1:p.Leu626Val | |
| XM_005247836.2:c.1846C>G | XP_005247893.1:p.Leu616Val | |
| XM_005247837.2:c.1363C>G | XP_005247894.1:p.Leu455Val | |
| XM_006713789.2:c.1846C>G | XP_006713852.1:p.Leu616Val | |
| XM_011513237.1:c.1846C>G | XP_011511539.1:p.Leu616Val | |
| XM_011513238.1:c.1846C>G | XP_011511540.1:p.Leu616Val | |
| XM_011513239.1:c.1258C>G | XP_011511541.1:p.Leu420Val | |
| XM_006713789.3:c.1846C>G | XP_006713852.1:p.Leu616Val | |
| XM_017007324.1:c.1846C>G | XP_016862813.1:p.Leu616Val | |
| XM_017007325.1:c.1846C>G | XP_016862814.1:p.Leu616Val | |
| NM_000388.4:c.1846C>G MANE Select | NP_000379.3:p.Leu616Val | |
| NM_001178065.2:c.1876C>G | NP_001171536.2:p.Leu626Val |