Linked Data
ClinVar Variation Id:
2037490
ClinVar RCV Id:
RCV002885802
dbSNP Id:
rs115531409
ExAC:
19:36223708 G / A
gnomAD v2:
19-36223708-G-A
gnomAD v3:
19-35732807-G-A
gnomAD v4:
19-35732807-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732807G>A , CM000681.2:g.35732807G>A | GRCh38 |
| NC_000019.9:g.36223708G>A , CM000681.1:g.36223708G>A | GRCh37 |
| NC_000019.8:g.40915548G>A | NCBI36 |
| NG_052906.1:g.19789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.564G>A | ||
| ENST00000673918.2:c.6192G>A | ENSP00000501283.1:p.Ser2064= | |
| ENST00000674114.2:c.3799G>A | ENSP00000501039.2:n.3799G>A | |
| ENST00000684977.1:c.1476G>A | ENSP00000509384.1:p.Ser492= | |
| ENST00000689544.1:n.1411G>A | ||
| ENST00000691421.1:c.1479G>A | ENSP00000508674.1:p.Ser493= | |
| ENST00000691855.1:c.5800G>A | ||
| ENST00000692961.1:c.6258G>A | ENSP00000509289.1:p.Ser2086= | |
| ENST00000693677.1:c.704+478G>A | ENSP00000509779.1:n.704+478G>A | |
| ENST00000420124.4:c.6258G>A MANE Select | ENSP00000398837.2:p.Ser2086= | |
| ENST00000673918.1:c.6192G>A | ENSP00000501283.1:p.Ser2064= | |
| ENST00000674114.1:c.3580G>A | ||
| ENST00000420124.2:c.6258G>A | ENSP00000398837.1:p.Ser2086= | |
| NM_014727.2:c.6258G>A | NP_055542.1:p.Ser2086= | |
| XM_011527561.1:c.6192G>A | XP_011525863.1:p.Ser2064= | |
| XM_011527562.1:c.6258G>A | XP_011525864.1:p.Ser2086= | |
| XM_011527563.1:c.5982G>A | XP_011525865.1:p.Ser1994= | |
| XM_011527561.2:c.5694G>A | XP_011525863.2:p.Ser1898= | |
| XM_011527562.2:c.6258G>A | XP_011525864.1:p.Ser2086= | |
| XM_017027544.1:c.6258G>A | XP_016883033.1:p.Ser2086= | |
| XM_017027545.1:c.5694G>A | XP_016883034.1:p.Ser1898= | |
| XM_017027546.1:c.3222G>A | XP_016883035.1:p.Ser1074= | |
| NM_014727.3:c.6258G>A MANE Select | NP_055542.1:p.Ser2086= |