Linked Data
ClinVar Variation Id:
460288
dbSNP Id:
rs138577419
ExAC:
1:33502381 G / C
gnomAD v2:
1-33502381-G-C
gnomAD v3:
1-33036780-G-C
gnomAD v4:
1-33036780-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33036780G>C , CM000663.2:g.33036780G>C | GRCh38 |
| NC_000001.10:g.33502381G>C , CM000663.1:g.33502381G>C | GRCh37 |
| NC_000001.9:g.33274968G>C | NCBI36 |
| NG_016269.1:g.5112C>G , LRG_133:g.5112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.82C>G | ||
| ENST00000491241.2:c.49C>G | ENSP00000512049.1:p.Arg17Gly | |
| ENST00000550338.6:c.49C>G | ENSP00000450008.1:p.Arg17Gly | |
| ENST00000695599.1:c.49C>G | ENSP00000512046.1:p.Arg17Gly | |
| ENST00000695600.1:n.126C>G | ||
| ENST00000695601.1:c.49C>G | ENSP00000512047.1:p.Arg17Gly | |
| ENST00000695602.1:c.49C>G | ENSP00000512048.1:p.Arg17Gly | |
| ENST00000695603.1:n.82C>G | ||
| ENST00000695604.1:c.49C>G | ENSP00000512050.1:p.Arg17Gly | |
| ENST00000695605.1:c.49C>G | ENSP00000512051.1:p.Arg17Gly | |
| ENST00000695606.1:n.64C>G | ||
| ENST00000354858.11:c.49C>G | ENSP00000346921.7:p.Arg17Gly | |
| ENST00000373449.7:c.49C>G | ENSP00000362548.2:p.Arg17Gly | |
| ENST00000672308.1:n.84C>G | ||
| ENST00000672715.1:c.49C>G MANE Select | ENSP00000499935.1:p.Arg17Gly | |
| ENST00000673291.1:c.49C>G | ENSP00000500549.1:p.Arg17Gly | |
| ENST00000354858.10:c.49C>G | ENSP00000346921.6:p.Arg17Gly | |
| ENST00000373449.6:c.49C>G | ENSP00000362548.2:p.Arg17Gly | |
| ENST00000467905.5:c.49C>G | ENSP00000447082.1:p.Arg17Gly | |
| ENST00000480134.5:c.49C>G | ENSP00000450109.1:p.Arg17Gly | |
| ENST00000487289.1:c.49C>G | ENSP00000446849.1:p.Arg17Gly | |
| ENST00000548033.5:c.49C>G | ENSP00000449003.1:p.Arg17Gly | |
| ENST00000548559.1:n.190-5119C>G | ||
| ENST00000550338.5:c.49C>G | ENSP00000450008.1:p.Arg17Gly | |
| ENST00000551979.1:n.89C>G | ||
| ENST00000626911.1:c.49C>G | ENSP00000486342.1:p.Arg17Gly | |
| ENST00000629371.2:c.49C>G | ENSP00000486507.1:p.Arg17Gly | |
| NM_001199199.1:c.49C>G | NP_001186128.1:p.Arg17Gly | |
| NM_001625.3:c.49C>G | NP_001616.1:p.Arg17Gly | |
| NM_013411.4:c.49C>G | NP_037543.1:p.Arg17Gly | |
| NR_037591.1:n.132C>G | ||
| NR_037592.1:n.132C>G | ||
| XM_011540967.1:c.49C>G | XP_011539269.1:p.Arg17Gly | |
| XR_246248.1:n.89C>G | ||
| XR_946575.1:n.89C>G | ||
| NM_001319139.1:c.-214C>G | NP_001306068.1:n.-214C>G | |
| NM_001319140.1:c.-214C>G | NP_001306069.1:n.-214C>G | |
| NM_001319141.1:c.49C>G | NP_001306070.1:p.Arg17Gly | |
| NM_001319142.1:c.49C>G | NP_001306071.1:p.Arg17Gly | |
| NM_001319143.1:c.49C>G | NP_001306072.1:p.Arg17Gly | |
| NR_134976.1:n.132C>G | ||
| XR_001737036.1:n.89C>G | ||
| XR_246248.2:n.89C>G | ||
| NM_001199199.2:c.49C>G | NP_001186128.1:p.Arg17Gly | |
| NM_001319139.2:c.-214C>G | NP_001306068.1:n.-214C>G | |
| NM_001319141.2:c.49C>G | NP_001306070.1:p.Arg17Gly | |
| NM_001319142.2:c.49C>G | NP_001306071.1:p.Arg17Gly | |
| NM_001625.4:c.49C>G MANE Select | NP_001616.1:p.Arg17Gly | |
| NM_013411.5:c.49C>G | NP_037543.1:p.Arg17Gly | |
| NR_134976.2:n.104C>G | ||
| NM_001199199.3:c.49C>G | NP_001186128.1:p.Arg17Gly | |
| NM_001319139.3:c.-214C>G | NP_001306068.1:n.-214C>G | |
| NM_001319140.2:c.-214C>G | NP_001306069.1:n.-214C>G | |
| NM_001319141.3:c.49C>G | NP_001306070.1:p.Arg17Gly | |
| NM_001319142.3:c.49C>G | NP_001306071.1:p.Arg17Gly | |
| NM_001319143.2:c.49C>G | NP_001306072.1:p.Arg17Gly | |
| NR_134976.3:n.104C>G |