Linked Data
ClinVar Variation Id:
454648
ClinVar RCV Id:
RCV000551406
dbSNP Id:
rs1554291973
gnomAD v4:
7-21880700-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880700A>G , CM000669.2:g.21880700A>G | GRCh38 |
| NC_000007.13:g.21920318A>G , CM000669.1:g.21920318A>G | GRCh37 |
| NC_000007.12:g.21886843A>G | NCBI36 |
| NG_012886.2:g.342486A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12196-2A>G MANE Select | ENSP00000475939.1:n.12196-2A>G | |
| ENST00000328843.10:c.12217-2A>G | ENSP00000330671.7:n.12217-2A>G | |
| ENST00000409508.7:c.12196-2A>G | ENSP00000475939.1:n.12196-2A>G | |
| ENST00000620169.4:c.12217-2A>G | ENSP00000481693.1:n.12217-2A>G | |
| NM_001277115.1:c.12196-2A>G | NP_001264044.1:n.12196-2A>G | |
| NM_001277115.2:c.12196-2A>G MANE Select | NP_001264044.1:n.12196-2A>G |