Linked Data
ClinVar Variation Id:
446452
dbSNP Id:
rs1554355011
gnomAD v4:
7-107674944-G-A
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674944G>A , CM000669.2:g.107674944G>A | GRCh38 |
| NC_000007.13:g.107315389G>A , CM000669.1:g.107315389G>A | GRCh37 |
| NC_000007.12:g.107102625G>A | NCBI36 |
| NG_008489.1:g.19310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.601-1G>A MANE Select | ENSP00000494017.1:n.601-1G>A | |
| ENST00000265715.7:c.601-1G>A | ENSP00000265715.3:n.601-1G>A | |
| NM_000441.1:c.601-1G>A | NP_000432.1:n.601-1G>A | |
| XM_005250425.1:c.601-1G>A | XP_005250482.1:n.601-1G>A | |
| XM_006716025.2:c.601-1G>A | XP_006716088.1:n.601-1G>A | |
| XM_005250425.2:c.601-1G>A | XP_005250482.1:n.601-1G>A | |
| XM_006716025.3:c.601-1G>A | XP_006716088.1:n.601-1G>A | |
| XM_017012318.1:c.601-1G>A | XP_016867807.1:n.601-1G>A | |
| NM_000441.2:c.601-1G>A MANE Select | NP_000432.1:n.601-1G>A |