Linked Data
ClinVar Variation Id:
2501571
ClinVar RCV Id:
RCV003227366
dbSNP Id:
rs28365950
gnomAD v2:
19-13049415-C-T
gnomAD v3:
19-12938601-C-T
gnomAD v4:
19-12938601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12938601C>T , CM000681.2:g.12938601C>T | GRCh38 |
| NC_000019.9:g.13049415C>T , CM000681.1:g.13049415C>T | GRCh37 |
| NC_000019.8:g.12910415C>T | NCBI36 |
| NG_029662.1:g.5002C>T , LRG_828:g.5002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587486.6:n.24C>T | ||
| NM_004343.3:c.-79C>T , LRG_828t1:c.-79C>T | NP_004334.1:n.-79C>T |