Linked Data
ClinVar Variation Id:
293650
ClinVar RCV Id:
RCV000261094
dbSNP Id:
rs781535204
ExAC:
1:170508402 T / G
gnomAD v2:
1-170508402-T-G
gnomAD v4:
1-170539261-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.170539261T>G , CM000663.2:g.170539261T>G | GRCh38 |
| NC_000001.10:g.170508402T>G , CM000663.1:g.170508402T>G | GRCh37 |
| NC_000001.9:g.168775026T>G | NCBI36 |
| NG_012237.1:g.12140T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684929.1:n.82T>G | ||
| ENST00000685515.1:c.301T>G | ENSP00000509073.1:p.Phe101Val | |
| ENST00000685976.1:n.218T>G | ||
| ENST00000686135.1:n.1573T>G | ||
| ENST00000686870.1:c.113T>G | ENSP00000510121.1:p.Leu38Arg | |
| ENST00000687370.1:n.3129T>G | ||
| ENST00000687880.1:c.*107T>G | ENSP00000508486.1:n.*107T>G | |
| ENST00000688499.1:c.301T>G | ENSP00000509581.1:p.Phe101Val | |
| ENST00000688688.1:c.62T>G | ENSP00000510426.1:p.Leu21Arg | |
| ENST00000689173.1:c.*107T>G | ENSP00000509341.1:n.*107T>G | |
| ENST00000690124.1:n.277T>G | ||
| ENST00000690898.1:n.302T>G | ||
| ENST00000691199.1:n.191-3230T>G | ||
| ENST00000691235.1:n.139-3230T>G | ||
| ENST00000691574.1:n.147T>G | ||
| ENST00000692234.1:c.301T>G | ENSP00000508508.1:p.Phe101Val | |
| ENST00000692855.1:n.264T>G | ||
| ENST00000692875.1:c.62T>G | ENSP00000508785.1:p.Leu21Arg | |
| ENST00000693173.1:c.*107T>G | ENSP00000510143.1:n.*107T>G | |
| ENST00000693373.1:n.101T>G | ||
| ENST00000367762.2:c.113T>G | ENSP00000356736.2:p.Leu38Arg | |
| ENST00000367763.8:c.113T>G MANE Select | ENSP00000356737.4:p.Leu38Arg | |
| ENST00000498166.6:c.*107T>G | ENSP00000473336.2:n.*107T>G | |
| ENST00000367762.1:c.188T>G | ENSP00000356736.1:p.Leu63Arg | |
| ENST00000367763.7:c.188T>G | ENSP00000356737.3:p.Leu63Arg | |
| ENST00000465717.1:n.199T>G | ||
| ENST00000498166.5:c.486T>G | ||
| ENST00000498600.2:n.200T>G | ||
| NM_001146039.1:c.188T>G | NP_001139511.1:p.Leu63Arg | |
| NM_152281.2:c.188T>G | NP_689494.2:p.Leu63Arg | |
| NR_027397.1:n.215T>G | ||
| XM_006711628.2:c.-357T>G | XP_006711691.1:n.-357T>G | |
| XM_006711629.2:c.-353T>G | XP_006711692.1:n.-353T>G | |
| XM_011510149.1:c.137T>G | XP_011508451.1:p.Leu46Arg | |
| XM_011510150.1:c.-357T>G | XP_011508452.1:n.-357T>G | |
| XM_011510151.1:c.-357T>G | XP_011508453.1:n.-357T>G | |
| NM_001320252.1:c.-353T>G | NP_001307181.1:n.-353T>G | |
| XM_006711628.4:c.-357T>G | XP_006711691.1:n.-357T>G | |
| XM_011510149.2:c.137T>G | XP_011508451.1:p.Leu46Arg | |
| XM_011510150.3:c.-357T>G | XP_011508452.1:n.-357T>G | |
| XM_017002807.1:c.-357T>G | XP_016858296.1:n.-357T>G | |
| XM_024450864.1:c.-353T>G | XP_024306632.1:n.-353T>G | |
| NM_001146039.2:c.113T>G | NP_001139511.2:p.Leu38Arg | |
| NM_001320252.2:c.-353T>G | NP_001307181.1:n.-353T>G | |
| NM_152281.3:c.113T>G MANE Select | NP_689494.3:p.Leu38Arg | |
| NR_027397.2:n.171T>G |