Linked Data
ClinVar Variation Id:
934823
ClinVar RCV Id:
RCV001203296
dbSNP Id:
rs751440049
gnomAD v4:
5-87268869-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87268869C>A , CM000667.2:g.87268869C>A | GRCh38 |
| NC_000005.9:g.86564686C>A , CM000667.1:g.86564686C>A | GRCh37 |
| NC_000005.8:g.86600442C>A | NCBI36 |
| NG_011650.1:g.5536C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.418C>A MANE Select | ENSP00000274376.6:p.Pro140Thr | |
| ENST00000274376.10:c.418C>A | ENSP00000274376.6:p.Pro140Thr | |
| ENST00000515800.6:c.418C>A | ENSP00000423395.2:p.Pro140Thr | |
| NM_002890.2:c.418C>A | NP_002881.1:p.Pro140Thr | |
| XM_011543525.1:c.418C>A | XP_011541827.1:p.Pro140Thr | |
| XM_011543526.1:c.418C>A | XP_011541828.1:p.Pro140Thr | |
| XM_011543527.1:c.418C>A | XP_011541829.1:p.Pro140Thr | |
| XM_011543525.2:c.418C>A | XP_011541827.1:p.Pro140Thr | |
| XM_011543527.3:c.418C>A | XP_011541829.1:p.Pro140Thr | |
| NM_002890.3:c.418C>A MANE Select | NP_002881.1:p.Pro140Thr |