Linked Data
ClinVar Variation Id:
2872450
ClinVar RCV Id:
RCV003706839
dbSNP Id:
rs1358683376
gnomAD v2:
20-44639542-T-C
gnomAD v3:
20-46010903-T-C
gnomAD v4:
20-46010903-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010903T>C , CM000682.2:g.46010903T>C | GRCh38 |
| NC_000020.10:g.44639542T>C , CM000682.1:g.44639542T>C | GRCh37 |
| NC_000020.9:g.44072949T>C | NCBI36 |
| NG_011468.1:g.6996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521-19T>C MANE Select | ENSP00000361405.3:n.521-19T>C | |
| NM_004994.2:c.521-19T>C | NP_004985.2:n.521-19T>C | |
| NM_004994.3:c.521-19T>C MANE Select | NP_004985.2:n.521-19T>C |