Linked Data
dbSNP Id:
rs1391208248
gnomAD v4:
19-35732702-T-A
MyVariant Identifiers:
chr19:g.36223603T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732702T>A , CM000681.2:g.35732702T>A | GRCh38 |
| NC_000019.9:g.36223603T>A , CM000681.1:g.36223603T>A | GRCh37 |
| NC_000019.8:g.40915443T>A | NCBI36 |
| NG_052906.1:g.19684T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.459T>A | ||
| ENST00000673918.2:c.6087T>A | ENSP00000501283.1:p.Ala2029= | |
| ENST00000674114.2:c.3694T>A | ENSP00000501039.2:n.3694T>A | |
| ENST00000684977.1:c.1371T>A | ENSP00000509384.1:p.Ala457= | |
| ENST00000689544.1:n.1306T>A | ||
| ENST00000691421.1:c.1374T>A | ENSP00000508674.1:p.Ala458= | |
| ENST00000691855.1:c.5695T>A | ||
| ENST00000692961.1:c.6153T>A | ENSP00000509289.1:p.Ala2051= | |
| ENST00000693677.1:c.704+373T>A | ENSP00000509779.1:n.704+373T>A | |
| ENST00000420124.4:c.6153T>A MANE Select | ENSP00000398837.2:p.Ala2051= | |
| ENST00000673918.1:c.6087T>A | ENSP00000501283.1:p.Ala2029= | |
| ENST00000674114.1:c.3475T>A | ||
| ENST00000420124.2:c.6153T>A | ENSP00000398837.1:p.Ala2051= | |
| NM_014727.2:c.6153T>A | NP_055542.1:p.Ala2051= | |
| XM_011527561.1:c.6087T>A | XP_011525863.1:p.Ala2029= | |
| XM_011527562.1:c.6153T>A | XP_011525864.1:p.Ala2051= | |
| XM_011527563.1:c.5877T>A | XP_011525865.1:p.Ala1959= | |
| XM_011527561.2:c.5589T>A | XP_011525863.2:p.Ala1863= | |
| XM_011527562.2:c.6153T>A | XP_011525864.1:p.Ala2051= | |
| XM_017027544.1:c.6153T>A | XP_016883033.1:p.Ala2051= | |
| XM_017027545.1:c.5589T>A | XP_016883034.1:p.Ala1863= | |
| XM_017027546.1:c.3117T>A | XP_016883035.1:p.Ala1039= | |
| NM_014727.3:c.6153T>A MANE Select | NP_055542.1:p.Ala2051= |