Linked Data
ClinVar Variation Id:
3003151
ClinVar RCV Id:
RCV003867766
dbSNP Id:
rs1293634035
gnomAD v2:
19-36223841-C-A
gnomAD v4:
19-35732940-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732940C>A , CM000681.2:g.35732940C>A | GRCh38 |
| NC_000019.9:g.36223841C>A , CM000681.1:g.36223841C>A | GRCh37 |
| NC_000019.8:g.40915681C>A | NCBI36 |
| NG_052906.1:g.19922C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.697C>A | ||
| ENST00000673918.2:c.6325C>A | ENSP00000501283.1:p.Pro2109Thr | |
| ENST00000674114.2:c.3932C>A | ENSP00000501039.2:n.3932C>A | |
| ENST00000684977.1:c.1609C>A | ENSP00000509384.1:p.Pro537Thr | |
| ENST00000689544.1:n.1544C>A | ||
| ENST00000691421.1:c.1612C>A | ENSP00000508674.1:p.Pro538Thr | |
| ENST00000691855.1:c.5933C>A | ||
| ENST00000692961.1:c.6391C>A | ENSP00000509289.1:p.Pro2131Thr | |
| ENST00000693677.1:c.704+611C>A | ENSP00000509779.1:n.704+611C>A | |
| ENST00000420124.4:c.6391C>A MANE Select | ENSP00000398837.2:p.Pro2131Thr | |
| ENST00000673918.1:c.6325C>A | ENSP00000501283.1:p.Pro2109Thr | |
| ENST00000674114.1:c.3713C>A | ||
| ENST00000420124.2:c.6391C>A | ENSP00000398837.1:p.Pro2131Thr | |
| NM_014727.2:c.6391C>A | NP_055542.1:p.Pro2131Thr | |
| XM_011527561.1:c.6325C>A | XP_011525863.1:p.Pro2109Thr | |
| XM_011527562.1:c.6391C>A | XP_011525864.1:p.Pro2131Thr | |
| XM_011527563.1:c.6115C>A | XP_011525865.1:p.Pro2039Thr | |
| XM_011527561.2:c.5827C>A | XP_011525863.2:p.Pro1943Thr | |
| XM_011527562.2:c.6391C>A | XP_011525864.1:p.Pro2131Thr | |
| XM_017027544.1:c.6391C>A | XP_016883033.1:p.Pro2131Thr | |
| XM_017027545.1:c.5827C>A | XP_016883034.1:p.Pro1943Thr | |
| XM_017027546.1:c.3355C>A | XP_016883035.1:p.Pro1119Thr | |
| NM_014727.3:c.6391C>A MANE Select | NP_055542.1:p.Pro2131Thr |