Linked Data
ClinVar Variation Id:
3112557
ClinVar RCV Id:
RCV004403468
dbSNP Id:
rs1247923524
gnomAD v2:
1-59248349-A-G
gnomAD v4:
1-58782677-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782677A>G , CM000663.2:g.58782677A>G | GRCh38 |
| NC_000001.10:g.59248349A>G , CM000663.1:g.59248349A>G | GRCh37 |
| NC_000001.9:g.59020937A>G | NCBI36 |
| NG_047027.1:g.6437T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.460T>C | ENSP00000518166.1:p.Ser154Pro | |
| ENST00000371222.4:c.394T>C MANE Select | ENSP00000360266.2:p.Ser132Pro | |
| ENST00000678696.1:c.394T>C | ENSP00000503132.1:p.Ser132Pro | |
| ENST00000371222.3:c.394T>C | ENSP00000360266.2:p.Ser132Pro | |
| NM_002228.3:c.394T>C | NP_002219.1:p.Ser132Pro | |
| NM_002228.4:c.394T>C MANE Select | NP_002219.1:p.Ser132Pro |