Linked Data
dbSNP Id:
rs10783071
ExAC:
1:92428495 C / A
gnomAD v2:
1-92428495-C-A
gnomAD v3:
1-91962938-C-A
gnomAD v4:
1-91962938-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91962938C>A , CM000663.2:g.91962938C>A | GRCh38 |
| NC_000001.10:g.92428495C>A , CM000663.1:g.92428495C>A | GRCh37 |
| NC_000001.9:g.92201083C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399546.7:c.184C>A MANE Select | ENSP00000387822.3:p.Gln62Lys | |
| ENST00000426141.6:c.184C>A | ENSP00000404969.1:p.Gln62Lys | |
| ENST00000448194.6:c.184C>A | ENSP00000410587.2:p.Gln62Lys | |
| ENST00000470955.6:c.184C>A | ENSP00000506247.1:p.Gln62Lys | |
| ENST00000680091.1:c.226C>A | ENSP00000506227.1:p.Gln76Lys | |
| ENST00000680541.1:c.-21-5208C>A | ENSP00000505035.1:n.-21-5208C>A | |
| ENST00000362005.7:c.184C>A | ENSP00000354568.3:p.Gln62Lys | |
| ENST00000370389.6:c.-27-1689C>A | ENSP00000359416.2:n.-27-1689C>A | |
| ENST00000394530.7:c.184C>A | ENSP00000378038.3:p.Gln62Lys | |
| ENST00000399546.6:c.184C>A | ENSP00000387822.2:p.Gln62Lys | |
| ENST00000402388.1:c.184C>A | ENSP00000384051.1:p.Gln62Lys | |
| ENST00000423434.5:c.184C>A | ENSP00000396351.1:p.Gln62Lys | |
| ENST00000426141.5:c.184C>A | ENSP00000404969.1:p.Gln62Lys | |
| ENST00000427104.5:c.184C>A | ENSP00000400002.1:p.Gln62Lys | |
| ENST00000440509.5:c.184C>A | ENSP00000416714.1:p.Gln62Lys | |
| ENST00000448194.5:c.184C>A | ENSP00000410587.1:p.Gln62Lys | |
| ENST00000450792.5:c.184C>A | ENSP00000414349.1:p.Gln62Lys | |
| ENST00000548992.5:c.184C>A | ENSP00000447394.1:p.Gln62Lys | |
| ENST00000552654.1:c.-36C>A | ENSP00000446599.1:n.-36C>A | |
| NM_001242805.2:c.184C>A | NP_001229734.2:p.Gln62Lys | |
| NM_001242806.2:c.184C>A | NP_001229735.2:p.Gln62Lys | |
| NM_001242807.2:c.184C>A | NP_001229736.2:p.Gln62Lys | |
| NM_001242808.2:c.184C>A | NP_001229737.2:p.Gln62Lys | |
| NM_001242810.2:c.-27-1689C>A | NP_001229739.2:n.-27-1689C>A | |
| NM_001726.4:c.184C>A | NP_001717.3:p.Gln62Lys | |
| NM_207189.3:c.184C>A | NP_997072.2:p.Gln62Lys | |
| XM_006710853.2:c.184C>A | XP_006710916.1:p.Gln62Lys | |
| XM_006710854.2:c.184C>A | XP_006710917.1:p.Gln62Lys | |
| XM_006710855.2:c.184C>A | XP_006710918.1:p.Gln62Lys | |
| XM_006710856.2:c.184C>A | XP_006710919.1:p.Gln62Lys | |
| XM_006710857.2:c.184C>A | XP_006710920.1:p.Gln62Lys | |
| XM_011542032.1:c.184C>A | XP_011540334.1:p.Gln62Lys | |
| XM_011542033.1:c.184C>A | XP_011540335.1:p.Gln62Lys | |
| XM_011542034.1:c.184C>A | XP_011540336.1:p.Gln62Lys | |
| XM_011542035.1:c.184C>A | XP_011540337.1:p.Gln62Lys | |
| XM_011542036.1:c.184C>A | XP_011540338.1:p.Gln62Lys | |
| XM_006710853.4:c.184C>A | XP_006710916.1:p.Gln62Lys | |
| XM_006710854.4:c.184C>A | XP_006710917.1:p.Gln62Lys | |
| XM_006710855.4:c.184C>A | XP_006710918.1:p.Gln62Lys | |
| XM_006710856.4:c.184C>A | XP_006710919.1:p.Gln62Lys | |
| XM_006710857.4:c.184C>A | XP_006710920.1:p.Gln62Lys | |
| XM_011542032.3:c.184C>A | XP_011540334.1:p.Gln62Lys | |
| XM_011542033.3:c.184C>A | XP_011540335.1:p.Gln62Lys | |
| XM_011542034.3:c.184C>A | XP_011540336.1:p.Gln62Lys | |
| XM_011542035.3:c.184C>A | XP_011540337.1:p.Gln62Lys | |
| XM_011542036.3:c.184C>A | XP_011540338.1:p.Gln62Lys | |
| NM_207189.4:c.184C>A MANE Select | NP_997072.2:p.Gln62Lys |