Linked Data
ClinVar Variation Id:
2869400
ClinVar RCV Id:
RCV003705541
dbSNP Id:
rs1474092285
gnomAD v4:
17-16000010-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16000010A>C , CM000679.2:g.16000010A>C | GRCh38 |
| NC_000017.10:g.15903324A>C , CM000679.1:g.15903324A>C | GRCh37 |
| NC_000017.9:g.15844049A>C | NCBI36 |
| NG_029806.1:g.5631A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.162A>C MANE Select | ENSP00000261647.5:p.Pro54= | |
| ENST00000261647.9:c.162A>C | ENSP00000261647.5:p.Pro54= | |
| ENST00000466729.5:c.227A>C | ||
| ENST00000470399.1:c.177A>C | ENSP00000465082.1:p.Pro59= | |
| ENST00000475723.5:c.209A>C | ||
| ENST00000497842.6:n.187A>C | ||
| ENST00000583704.1:n.187A>C | ||
| NM_001271420.1:c.-297A>C | NP_001258349.1:n.-297A>C | |
| NM_017775.3:c.162A>C | NP_060245.3:p.Pro54= | |
| XM_011523950.1:c.162A>C | XP_011522252.1:p.Pro54= | |
| XM_017024801.2:c.162A>C | XP_016880290.2:p.Pro54= | |
| XM_017024802.2:c.162A>C | XP_016880291.2:p.Pro54= | |
| XM_024450814.1:c.162A>C | XP_024306582.1:p.Pro54= | |
| NM_017775.4:c.162A>C MANE Select | NP_060245.3:p.Pro54= | |
| NM_001271420.2:c.-297A>C | NP_001258349.1:n.-297A>C |