Linked Data
ClinVar Variation Id:
1213736
dbSNP Id:
rs1378093754
gnomAD v3:
22-42213412-G-T
gnomAD v4:
22-42213412-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42213412G>T , CM000684.2:g.42213412G>T | GRCh38 |
| NC_000022.10:g.42609418G>T , CM000684.1:g.42609418G>T | GRCh37 |
| NC_000022.9:g.40939362G>T | NCBI36 |
| NG_028982.3:g.135205C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683686.1:c.1894C>A | ENSP00000508272.1:p.Pro632Thr | |
| ENST00000359486.8:c.1894C>A | ENSP00000352463.3:p.Pro632Thr | |
| ENST00000675876.1:c.1894C>A | ENSP00000502259.1:p.Pro632Thr | |
| ENST00000677622.1:c.1894C>A MANE Select | ENSP00000503828.1:p.Pro632Thr | |
| ENST00000335626.8:c.1894C>A | ENSP00000335561.4:p.Pro632Thr | |
| ENST00000359486.7:c.1894C>A | ENSP00000352463.3:p.Pro632Thr | |
| NM_005650.2:c.1894C>A | NP_005641.1:p.Pro632Thr | |
| NM_005650.3:c.1894C>A | NP_005641.1:p.Pro632Thr | |
| NM_181492.2:c.1894C>A | NP_852469.1:p.Pro632Thr | |
| XM_005261722.2:c.1894C>A | XP_005261779.1:p.Pro632Thr | |
| XM_006724313.2:c.1894C>A | XP_006724376.1:p.Pro632Thr | |
| XM_011530353.1:c.1894C>A | XP_011528655.1:p.Pro632Thr | |
| XM_011530354.1:c.1894C>A | XP_011528656.1:p.Pro632Thr | |
| XM_011530355.1:c.1894C>A | XP_011528657.1:p.Pro632Thr | |
| XM_005261722.3:c.1894C>A | XP_005261779.1:p.Pro632Thr | |
| XM_006724313.3:c.1894C>A | XP_006724376.1:p.Pro632Thr | |
| XM_011530353.2:c.1894C>A | XP_011528655.1:p.Pro632Thr | |
| XM_011530354.2:c.1894C>A | XP_011528656.1:p.Pro632Thr | |
| NM_001378418.1:c.1894C>A MANE Select | NP_001365347.1:p.Pro632Thr | |
| NM_005650.4:c.1894C>A | NP_005641.1:p.Pro632Thr | |
| NM_181492.3:c.1894C>A | NP_852469.1:p.Pro632Thr |