Linked Data
ClinVar Variation Id:
2204291
ClinVar RCV Id:
RCV004069148
dbSNP Id:
rs1362524392
gnomAD v2:
2-79254289-C-T
gnomAD v4:
2-79027163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79027163C>T , CM000664.2:g.79027163C>T | GRCh38 |
| NC_000002.11:g.79254289C>T , CM000664.1:g.79254289C>T | GRCh37 |
| NC_000002.10:g.79107797C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272324.10:c.325C>T MANE Select | ENSP00000272324.5:p.Pro109Ser | |
| ENST00000272324.9:c.325C>T | ENSP00000272324.5:p.Pro109Ser | |
| ENST00000393897.6:c.325C>T | ENSP00000377475.2:p.Pro109Ser | |
| ENST00000409471.1:c.195+332C>T | ENSP00000387105.1:n.195+332C>T | |
| ENST00000490944.1:n.879C>T | ||
| NM_001008387.2:c.325C>T | NP_001008388.1:p.Pro109Ser | |
| NM_001270040.1:c.195+332C>T | NP_001256969.1:n.195+332C>T | |
| NM_198448.3:c.325C>T | NP_940850.1:p.Pro109Ser | |
| XM_005264135.1:c.325C>T | XP_005264192.1:p.Pro109Ser | |
| XM_005264135.2:c.325C>T | XP_005264192.1:p.Pro109Ser | |
| XM_024452693.1:c.195+332C>T | XP_024308461.1:n.195+332C>T | |
| XM_024452694.1:c.195+332C>T | XP_024308462.1:n.195+332C>T | |
| NM_001008387.3:c.325C>T MANE Select | NP_001008388.1:p.Pro109Ser | |
| NM_001270040.2:c.195+332C>T | NP_001256969.1:n.195+332C>T | |
| NM_198448.4:c.325C>T | NP_940850.1:p.Pro109Ser |