Linked Data
ClinVar Variation Id:
120094
ClinVar RCV Id:
RCV000106292
dbSNP Id:
rs281860641
gnomAD v2:
12-96429871-G-A
gnomAD v3:
12-96036093-G-A
gnomAD v4:
12-96036093-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96036093G>A , CM000674.2:g.96036093G>A | GRCh38 |
| NC_000012.11:g.96429871G>A , CM000674.1:g.96429871G>A | GRCh37 |
| NC_000012.10:g.94954002G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413268.6:c.88-6908C>T | ENSP00000395051.2:n.88-6908C>T | |
| ENST00000552789.5:c.88-6908C>T | ENSP00000449958.1:n.88-6908C>T | |
| NM_001256643.1:c.88-6908C>T | NP_001243572.1:n.88-6908C>T | |
| NM_001256644.1:c.88-6908C>T | NP_001243573.1:n.88-6908C>T |