Linked Data
ClinVar Variation Id:
2857806
ClinVar RCV Id:
RCV003704047
dbSNP Id:
rs1227040073
gnomAD v2:
8-38001910-G-A
gnomAD v4:
8-38144392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144392G>A , CM000670.2:g.38144392G>A | GRCh38 |
| NC_000008.10:g.38001910G>A , CM000670.1:g.38001910G>A | GRCh37 |
| NC_000008.9:g.38121067G>A | NCBI36 |
| NG_011827.1:g.11691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.745-6C>T MANE Select | ENSP00000276449.3:n.745-6C>T | |
| ENST00000276449.8:c.745-6C>T | ENSP00000276449.3:n.745-6C>T | |
| ENST00000520114.1:n.2708C>T | ||
| ENST00000522050.1:c.587-6C>T | ||
| NM_000349.2:c.745-6C>T | NP_000340.2:n.745-6C>T | |
| XM_006716392.1:c.651-6C>T | XP_006716455.1:n.651-6C>T | |
| NM_000349.3:c.745-6C>T MANE Select | NP_000340.2:n.745-6C>T |