Linked Data
ClinVar Variation Id:
1730751
ClinVar RCV Id:
RCV002451760
dbSNP Id:
rs1555185452
gnomAD v4:
12-40299134-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40299134C>A , CM000674.2:g.40299134C>A | GRCh38 |
| NC_000012.11:g.40692936C>A , CM000674.1:g.40692936C>A | GRCh37 |
| NC_000012.10:g.38979203C>A | NCBI36 |
| NG_011709.1:g.79124C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.3373C>A MANE Select | ENSP00000298910.7:p.Pro1125Thr | |
| ENST00000679360.1:c.*2282C>A | ENSP00000505368.1:n.*2282C>A | |
| ENST00000680790.1:c.3118C>A | ENSP00000505335.1:p.Pro1040Thr | |
| ENST00000298910.11:c.3373C>A | ENSP00000298910.7:p.Pro1125Thr | |
| ENST00000343742.6:c.3373C>A | ENSP00000341930.2:p.Pro1125Thr | |
| ENST00000430804.5:c.417C>A | ||
| ENST00000479187.5:n.54C>A | ||
| NM_198578.3:c.3373C>A | NP_940980.3:p.Pro1125Thr | |
| XM_005268629.2:c.3373C>A | XP_005268686.1:p.Pro1125Thr | |
| XM_011537877.1:c.3373C>A | XP_011536179.1:p.Pro1125Thr | |
| XM_011537878.1:c.3373C>A | XP_011536180.1:p.Pro1125Thr | |
| XM_011537879.1:c.2170C>A | XP_011536181.1:p.Pro724Thr | |
| XM_011537880.1:c.3373C>A | XP_011536182.1:p.Pro1125Thr | |
| XM_011537881.1:c.3373C>A | XP_011536183.1:p.Pro1125Thr | |
| XM_011537882.1:c.3373C>A | XP_011536184.1:p.Pro1125Thr | |
| XM_005268629.4:c.3373C>A | XP_005268686.1:p.Pro1125Thr | |
| XM_011537877.3:c.3373C>A | XP_011536179.1:p.Pro1125Thr | |
| XM_011537881.3:c.3373C>A | XP_011536183.1:p.Pro1125Thr | |
| XM_011537882.3:c.3373C>A | XP_011536184.1:p.Pro1125Thr | |
| XM_017018786.2:c.3373C>A | XP_016874275.1:p.Pro1125Thr | |
| XM_017018787.1:c.289C>A | XP_016874276.1:p.Pro97Thr | |
| XM_017018789.2:c.3373C>A | XP_016874278.1:p.Pro1125Thr | |
| XM_024448833.1:c.2170C>A | XP_024304601.1:p.Pro724Thr | |
| XR_001748574.2:n.3615C>A | ||
| NM_198578.4:c.3373C>A MANE Select | NP_940980.4:p.Pro1125Thr |