Linked Data
ClinVar Variation Id:
2800728
ClinVar RCV Id:
RCV003620570
dbSNP Id:
rs1836457897
gnomAD v4:
9-133352620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352620G>A , CM000671.2:g.133352620G>A | GRCh38 |
| NC_000009.10:g.135209296G>A | NCBI36 |
| NG_008477.1:g.8887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.589-12C>T MANE Select | ENSP00000361042.3:n.589-12C>T | |
| ENST00000371974.7:c.589-12C>T | ENSP00000361042.3:n.589-12C>T | |
| ENST00000437995.1:n.499-12C>T | ||
| ENST00000495952.5:n.579-12C>T | ||
| ENST00000615505.4:c.262-12C>T | ENSP00000482067.1:n.262-12C>T | |
| NM_001280787.1:c.262-12C>T | NP_001267716.1:n.262-12C>T | |
| NM_003172.3:c.589-12C>T | NP_003163.1:n.589-12C>T | |
| XM_011518942.1:c.262-12C>T | XP_011517244.1:n.262-12C>T | |
| NM_003172.4:c.589-12C>T MANE Select | NP_003163.1:n.589-12C>T |