Linked Data
ClinVar Variation Id:
437370
dbSNP Id:
rs74861823
ExAC:
18:72343465 A / G
gnomAD v2:
18-72343465-A-G
gnomAD v3:
18-74631509-A-G
gnomAD v4:
18-74631509-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.74631509A>G , CM000680.2:g.74631509A>G | GRCh38 |
| NC_000018.9:g.72343465A>G , CM000680.1:g.72343465A>G | GRCh37 |
| NC_000018.8:g.70472453A>G | NCBI36 |
| NG_013216.1:g.5547A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299687.10:c.490A>G MANE Select | ENSP00000299687.4:p.Arg164Gly | |
| ENST00000299687.9:c.490A>G | ENSP00000299687.4:p.Arg164Gly | |
| ENST00000309902.10:c.490A>G | ENSP00000310359.5:p.Arg164Gly | |
| ENST00000577538.5:c.490A>G | ENSP00000463270.1:p.Arg164Gly | |
| ENST00000582337.5:c.490A>G | ENSP00000462348.1:p.Arg164Gly | |
| NM_001146189.1:c.490A>G | NP_001139661.1:p.Arg164Gly | |
| NM_001146190.1:c.490A>G | NP_001139662.1:p.Arg164Gly | |
| NM_017757.2:c.490A>G | NP_060227.2:p.Arg164Gly | |
| XM_005266726.3:c.490A>G | XP_005266783.1:p.Arg164Gly | |
| XM_006722500.2:c.490A>G | XP_006722563.1:p.Arg164Gly | |
| XM_006722501.2:c.490A>G | XP_006722564.1:p.Arg164Gly | |
| XM_011526068.1:c.490A>G | XP_011524370.1:p.Arg164Gly | |
| XM_011526069.1:c.490A>G | XP_011524371.1:p.Arg164Gly | |
| XM_011526070.1:c.490A>G | XP_011524372.1:p.Arg164Gly | |
| XM_005266726.5:c.490A>G | XP_005266783.1:p.Arg164Gly | |
| XM_006722500.4:c.490A>G | XP_006722563.1:p.Arg164Gly | |
| XM_011526068.2:c.490A>G | XP_011524370.1:p.Arg164Gly | |
| XM_011526069.3:c.490A>G | XP_011524371.1:p.Arg164Gly | |
| XM_011526070.2:c.490A>G | XP_011524372.1:p.Arg164Gly | |
| XM_017025838.2:c.490A>G | XP_016881327.1:p.Arg164Gly | |
| NM_001384475.1:c.490A>G | NP_001371404.1:p.Arg164Gly | |
| NM_017757.3:c.490A>G MANE Select | NP_060227.2:p.Arg164Gly |