Linked Data
ClinVar Variation Id:
1571186
ClinVar RCV Id:
RCV002217518
dbSNP Id:
rs1351136873
gnomAD v2:
12-58158316-A-G
gnomAD v4:
12-57764533-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764533A>G , CM000674.2:g.57764533A>G | GRCh38 |
| NC_000012.11:g.58158316A>G , CM000674.1:g.58158316A>G | GRCh37 |
| NC_000012.10:g.56444583A>G | NCBI36 |
| NG_007076.1:g.7661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1062T>C | ENSP00000518840.1:p.Ser354= | |
| ENST00000713545.1:c.1039T>C | ENSP00000518841.1:p.Leu347= | |
| ENST00000228606.9:c.981T>C MANE Select | ENSP00000228606.4:p.Ser327= | |
| ENST00000228606.8:c.981T>C | ENSP00000228606.4:p.Ser327= | |
| ENST00000546567.5:c.276T>C | ENSP00000449472.1:p.Ser92= | |
| ENST00000547344.5:n.1120T>C | ||
| NM_000785.3:c.981T>C | NP_000776.1:p.Ser327= | |
| NM_000785.4:c.981T>C MANE Select | NP_000776.1:p.Ser327= |