Linked Data
dbSNP Id:
rs772833164
ExAC:
19:36220998 A / G
gnomAD v2:
19-36220998-A-G
gnomAD v4:
19-35730097-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730097A>G , CM000681.2:g.35730097A>G | GRCh38 |
| NC_000019.9:g.36220998A>G , CM000681.1:g.36220998A>G | GRCh37 |
| NC_000019.8:g.40912838A>G | NCBI36 |
| NG_052906.1:g.17079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4982A>G | ENSP00000501283.1:p.Gln1661Arg | |
| ENST00000674114.2:c.2589A>G | ENSP00000501039.2:n.2589A>G | |
| ENST00000684977.1:c.266A>G | ENSP00000509384.1:p.Gln89Arg | |
| ENST00000685168.1:c.474A>G | ||
| ENST00000689544.1:n.201A>G | ||
| ENST00000691421.1:c.269A>G | ENSP00000508674.1:p.Gln90Arg | |
| ENST00000691855.1:c.4590A>G | ||
| ENST00000692961.1:c.5048A>G | ENSP00000509289.1:p.Gln1683Arg | |
| ENST00000420124.4:c.5048A>G MANE Select | ENSP00000398837.2:p.Gln1683Arg | |
| ENST00000673918.1:c.4982A>G | ENSP00000501283.1:p.Gln1661Arg | |
| ENST00000674114.1:c.2370A>G | ||
| ENST00000420124.2:c.5048A>G | ENSP00000398837.1:p.Gln1683Arg | |
| NM_014727.2:c.5048A>G | NP_055542.1:p.Gln1683Arg | |
| XM_011527561.1:c.4982A>G | XP_011525863.1:p.Gln1661Arg | |
| XM_011527562.1:c.5048A>G | XP_011525864.1:p.Gln1683Arg | |
| XM_011527563.1:c.4772A>G | XP_011525865.1:p.Gln1591Arg | |
| XM_011527561.2:c.4484A>G | XP_011525863.2:p.Gln1495Arg | |
| XM_011527562.2:c.5048A>G | XP_011525864.1:p.Gln1683Arg | |
| XM_017027544.1:c.5048A>G | XP_016883033.1:p.Gln1683Arg | |
| XM_017027545.1:c.4484A>G | XP_016883034.1:p.Gln1495Arg | |
| XM_017027546.1:c.2012A>G | XP_016883035.1:p.Gln671Arg | |
| NM_014727.3:c.5048A>G MANE Select | NP_055542.1:p.Gln1683Arg |