Linked Data
ClinVar Variation Id:
1571990
ClinVar RCV Id:
RCV002219436
dbSNP Id:
rs1000541551
gnomAD v4:
1-94021631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021631G>A , CM000663.2:g.94021631G>A | GRCh38 |
| NC_000001.10:g.94487187G>A , CM000663.1:g.94487187G>A | GRCh37 |
| NC_000001.9:g.94259775G>A | NCBI36 |
| NG_009073.1:g.104519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4848+9C>T MANE Select | ENSP00000359245.3:n.4848+9C>T | |
| ENST00000370225.3:c.4848+9C>T | ENSP00000359245.3:n.4848+9C>T | |
| ENST00000460514.1:n.342+9C>T | ||
| ENST00000536513.5:c.1224+9C>T | ENSP00000439707.2:n.1224+9C>T | |
| NM_000350.2:c.4848+9C>T | NP_000341.2:n.4848+9C>T | |
| NM_000350.3:c.4848+9C>T MANE Select | NP_000341.2:n.4848+9C>T |