Linked Data
ClinVar Variation Id:
732440
ClinVar RCV Id:
RCV000907581
dbSNP Id:
rs375564425
ExAC:
19:36223699 G / T
gnomAD v2:
19-36223699-G-T
gnomAD v3:
19-35732798-G-T
gnomAD v4:
19-35732798-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732798G>T , CM000681.2:g.35732798G>T | GRCh38 |
| NC_000019.9:g.36223699G>T , CM000681.1:g.36223699G>T | GRCh37 |
| NC_000019.8:g.40915539G>T | NCBI36 |
| NG_052906.1:g.19780G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.555G>T | ||
| ENST00000673918.2:c.6183G>T | ENSP00000501283.1:p.Thr2061= | |
| ENST00000674114.2:c.3790G>T | ENSP00000501039.2:n.3790G>T | |
| ENST00000684977.1:c.1467G>T | ENSP00000509384.1:p.Thr489= | |
| ENST00000689544.1:n.1402G>T | ||
| ENST00000691421.1:c.1470G>T | ENSP00000508674.1:p.Thr490= | |
| ENST00000691855.1:c.5791G>T | ||
| ENST00000692961.1:c.6249G>T | ENSP00000509289.1:p.Thr2083= | |
| ENST00000693677.1:c.704+469G>T | ENSP00000509779.1:n.704+469G>T | |
| ENST00000420124.4:c.6249G>T MANE Select | ENSP00000398837.2:p.Thr2083= | |
| ENST00000673918.1:c.6183G>T | ENSP00000501283.1:p.Thr2061= | |
| ENST00000674114.1:c.3571G>T | ||
| ENST00000420124.2:c.6249G>T | ENSP00000398837.1:p.Thr2083= | |
| NM_014727.2:c.6249G>T | NP_055542.1:p.Thr2083= | |
| XM_011527561.1:c.6183G>T | XP_011525863.1:p.Thr2061= | |
| XM_011527562.1:c.6249G>T | XP_011525864.1:p.Thr2083= | |
| XM_011527563.1:c.5973G>T | XP_011525865.1:p.Thr1991= | |
| XM_011527561.2:c.5685G>T | XP_011525863.2:p.Thr1895= | |
| XM_011527562.2:c.6249G>T | XP_011525864.1:p.Thr2083= | |
| XM_017027544.1:c.6249G>T | XP_016883033.1:p.Thr2083= | |
| XM_017027545.1:c.5685G>T | XP_016883034.1:p.Thr1895= | |
| XM_017027546.1:c.3213G>T | XP_016883035.1:p.Thr1071= | |
| NM_014727.3:c.6249G>T MANE Select | NP_055542.1:p.Thr2083= |