Linked Data
ClinVar Variation Id:
195251
dbSNP Id:
rs112527210
ExAC:
9:32550912 G / A
gnomAD v2:
9-32550912-G-A
gnomAD v3:
9-32550914-G-A
gnomAD v4:
9-32550914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550914G>A , CM000671.2:g.32550914G>A | GRCh38 |
| NC_000009.11:g.32550912G>A , CM000671.1:g.32550912G>A | GRCh37 |
| NC_000009.10:g.32540912G>A | NCBI36 |
| NG_017050.1:g.6711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.58C>T MANE Select | ENSP00000353735.2:p.Pro20Ser | |
| ENST00000680198.1:c.58C>T | ENSP00000505143.1:p.Pro20Ser | |
| ENST00000681750.1:c.-185C>T | ENSP00000506413.1:n.-185C>T | |
| ENST00000360538.6:c.58C>T | ENSP00000353735.2:p.Pro20Ser | |
| ENST00000379858.1:c.3+1520C>T | ENSP00000369187.1:n.3+1520C>T | |
| NM_001195622.1:c.3+1520C>T | NP_001182551.1:n.3+1520C>T | |
| NM_005802.4:c.58C>T | NP_005793.2:p.Pro20Ser | |
| NM_005802.5:c.58C>T MANE Select | NP_005793.2:p.Pro20Ser | |
| NM_001195622.2:c.3+1520C>T | NP_001182551.1:n.3+1520C>T |