Linked Data
ClinVar Variation Id:
510818
ClinVar RCV Id:
RCV000600310
dbSNP Id:
rs1555212451
gnomAD v4:
12-113468123-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113468123G>T , CM000674.2:g.113468123G>T | GRCh38 |
| NC_000012.11:g.113905928G>T , CM000674.1:g.113905928G>T | GRCh37 |
| NC_000012.10:g.112390311G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261731.4:c.675+4C>A MANE Select | ENSP00000261731.2:n.675+4C>A | |
| ENST00000261731.3:c.675+4C>A | ENSP00000261731.2:n.675+4C>A | |
| NM_022363.2:c.675+4C>A | NP_071758.1:n.675+4C>A | |
| NM_022363.3:c.675+4C>A MANE Select | NP_071758.1:n.675+4C>A |