Linked Data
ClinVar Variation Id:
2815324
ClinVar RCV Id:
RCV003683380
dbSNP Id:
rs1659063094
gnomAD v4:
1-93998115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93998115G>A , CM000663.2:g.93998115G>A | GRCh38 |
| NC_000001.10:g.94463671G>A , CM000663.1:g.94463671G>A | GRCh37 |
| NC_000001.9:g.94236259G>A | NCBI36 |
| NG_009073.1:g.128035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6480-5C>T MANE Select | ENSP00000359245.3:n.6480-5C>T | |
| ENST00000370225.3:c.6480-5C>T | ENSP00000359245.3:n.6480-5C>T | |
| ENST00000536513.5:c.2856-5C>T | ENSP00000439707.2:n.2856-5C>T | |
| NM_000350.2:c.6480-5C>T | NP_000341.2:n.6480-5C>T | |
| NM_000350.3:c.6480-5C>T MANE Select | NP_000341.2:n.6480-5C>T |