Linked Data
ClinVar Variation Id:
2130599
ClinVar RCV Id:
RCV003052170
dbSNP Id:
rs1468771108
gnomAD v2:
1-12316545-C-G
gnomAD v4:
1-12256488-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12256488C>G , CM000663.2:g.12256488C>G | GRCh38 |
| NC_000001.10:g.12316545C>G , CM000663.1:g.12316545C>G | GRCh37 |
| NC_000001.9:g.12239132C>G | NCBI36 |
| NG_056877.1:g.31450C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.825C>G MANE Select | ENSP00000478104.1:p.Pro275= | |
| ENST00000489961.1:n.306C>G | ||
| ENST00000613099.4:c.825C>G | ENSP00000482233.1:p.Pro275= | |
| ENST00000620676.4:c.825C>G | ENSP00000478104.1:p.Pro275= | |
| NM_015378.3:c.825C>G | NP_056193.2:p.Pro275= | |
| NM_018156.3:c.825C>G | NP_060626.2:p.Pro275= | |
| NM_015378.4:c.825C>G MANE Select | NP_056193.2:p.Pro275= | |
| NM_018156.4:c.825C>G | NP_060626.2:p.Pro275= |