Linked Data
ClinVar Variation Id:
1598058
ClinVar RCV Id:
RCV002105961
dbSNP Id:
rs2128935975
gnomAD v4:
7-128843400-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843400G>T , CM000669.2:g.128843400G>T | GRCh38 |
| NC_000007.13:g.128483454G>T , CM000669.1:g.128483454G>T | GRCh37 |
| NC_000007.12:g.128270690G>T | NCBI36 |
| NG_011807.1:g.17972G>T , LRG_870:g.17972G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2642-8G>T MANE Select | ENSP00000327145.8:n.2642-8G>T | |
| ENST00000325888.12:c.2642-8G>T | ENSP00000327145.8:n.2642-8G>T | |
| ENST00000346177.6:c.2642-8G>T | ENSP00000344002.6:n.2642-8G>T | |
| NM_001127487.1:c.2642-8G>T | NP_001120959.1:n.2642-8G>T | |
| NM_001458.4:c.2642-8G>T , LRG_870t1:c.2642-8G>T | NP_001449.3:n.2642-8G>T | |
| NM_001127487.2:c.2642-8G>T | NP_001120959.1:n.2642-8G>T | |
| NM_001458.5:c.2642-8G>T MANE Select | NP_001449.3:n.2642-8G>T |