Linked Data
ClinVar Variation Id:
2594703
ClinVar RCV Id:
RCV004335757
dbSNP Id:
rs777564341
ExAC:
5:110407623 T / A
gnomAD v2:
5-110407623-T-A
gnomAD v3:
5-111071925-T-A
gnomAD v4:
5-111071925-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071925T>A , CM000667.2:g.111071925T>A | GRCh38 |
| NC_000005.9:g.110407623T>A , CM000667.1:g.110407623T>A | GRCh37 |
| NC_000005.8:g.110435522T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.35T>A MANE Select | ENSP00000339804.3:p.Val12Asp | |
| ENST00000344895.3:c.35T>A | ENSP00000339804.3:p.Val12Asp | |
| ENST00000420978.6:c.35T>A | ENSP00000399099.2:p.Val12Asp | |
| NM_033035.4:c.35T>A | NP_149024.1:p.Val12Asp | |
| NR_045089.1:n.1439T>A | ||
| NM_033035.5:c.35T>A MANE Select | NP_149024.1:p.Val12Asp | |
| NR_045089.2:n.1457T>A |