Linked Data
ClinVar Variation Id:
2175159
ClinVar RCV Id:
RCV002602262
dbSNP Id:
rs1478845443
gnomAD v3:
10-122461898-G-C
gnomAD v4:
10-122461898-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461898G>C , CM000672.2:g.122461898G>C | GRCh38 |
| NC_000010.10:g.124221414G>C , CM000672.1:g.124221414G>C | GRCh37 |
| NC_000010.9:g.124211404G>C | NCBI36 |
| NG_011554.1:g.5374G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.246G>C MANE Select | ENSP00000357980.3:p.Pro82= | |
| ENST00000648167.1:c.154+3189G>C | ENSP00000498033.1:n.154+3189G>C | |
| ENST00000368984.7:c.246G>C | ENSP00000357980.3:p.Pro82= | |
| NM_002775.4:c.246G>C | NP_002766.1:p.Pro82= | |
| NM_002775.5:c.246G>C MANE Select | NP_002766.1:p.Pro82= |