Linked Data
ClinVar Variation Id:
1949899
ClinVar RCV Id:
RCV002659577
dbSNP Id:
rs953948041
gnomAD v2:
10-69991428-A-G
gnomAD v3:
10-68231671-A-G
gnomAD v4:
10-68231671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231671A>G , CM000672.2:g.68231671A>G | GRCh38 |
| NC_000010.10:g.69991428A>G , CM000672.1:g.69991428A>G | GRCh37 |
| NC_000010.9:g.69661434A>G | NCBI36 |
| NG_031934.1:g.5443T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.7T>C MANE Select | ENSP00000362777.3:p.Ser3Pro | |
| ENST00000373673.4:c.7T>C | ENSP00000362777.3:p.Ser3Pro | |
| NM_145178.3:c.7T>C | NP_660161.1:p.Ser3Pro | |
| NM_145178.4:c.7T>C MANE Select | NP_660161.1:p.Ser3Pro |