Linked Data
ClinVar Variation Id:
1213366
ClinVar RCV Id:
RCV001591538
dbSNP Id:
rs750486219
ExAC:
19:36223909 C / T
gnomAD v2:
19-36223909-C-T
gnomAD v3:
19-35733008-C-T
gnomAD v4:
19-35733008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733008C>T , CM000681.2:g.35733008C>T | GRCh38 |
| NC_000019.9:g.36223909C>T , CM000681.1:g.36223909C>T | GRCh37 |
| NC_000019.8:g.40915749C>T | NCBI36 |
| NG_052906.1:g.19990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.765C>T | ||
| ENST00000673918.2:c.6393C>T | ENSP00000501283.1:p.Thr2131= | |
| ENST00000674114.2:c.4000C>T | ENSP00000501039.2:n.4000C>T | |
| ENST00000684977.1:c.1677C>T | ENSP00000509384.1:p.Thr559= | |
| ENST00000689544.1:n.1612C>T | ||
| ENST00000691421.1:c.1680C>T | ENSP00000508674.1:p.Thr560= | |
| ENST00000691855.1:c.6001C>T | ||
| ENST00000692961.1:c.6459C>T | ENSP00000509289.1:p.Thr2153= | |
| ENST00000693677.1:c.705-589C>T | ENSP00000509779.1:n.705-589C>T | |
| ENST00000420124.4:c.6459C>T MANE Select | ENSP00000398837.2:p.Thr2153= | |
| ENST00000673918.1:c.6393C>T | ENSP00000501283.1:p.Thr2131= | |
| ENST00000674114.1:c.3781C>T | ||
| ENST00000420124.2:c.6459C>T | ENSP00000398837.1:p.Thr2153= | |
| NM_014727.2:c.6459C>T | NP_055542.1:p.Thr2153= | |
| XM_011527561.1:c.6393C>T | XP_011525863.1:p.Thr2131= | |
| XM_011527562.1:c.6459C>T | XP_011525864.1:p.Thr2153= | |
| XM_011527563.1:c.6183C>T | XP_011525865.1:p.Thr2061= | |
| XM_011527561.2:c.5895C>T | XP_011525863.2:p.Thr1965= | |
| XM_011527562.2:c.6459C>T | XP_011525864.1:p.Thr2153= | |
| XM_017027544.1:c.6459C>T | XP_016883033.1:p.Thr2153= | |
| XM_017027545.1:c.5895C>T | XP_016883034.1:p.Thr1965= | |
| XM_017027546.1:c.3423C>T | XP_016883035.1:p.Thr1141= | |
| NM_014727.3:c.6459C>T MANE Select | NP_055542.1:p.Thr2153= |