Linked Data
dbSNP Id:
rs1033478889
gnomAD v3:
7-45913893-G-T
gnomAD v4:
7-45913893-G-T
MyVariant Identifiers:
chr7:g.45913893G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45913893G>T , CM000669.2:g.45913893G>T | GRCh38 |
| NC_000007.13:g.45953492G>T , CM000669.1:g.45953492G>T | GRCh37 |
| NC_000007.12:g.45920017G>T | NCBI36 |
| NG_011508.1:g.12380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613132.5:c.*16-59C>A MANE Select | ENSP00000477772.2:n.*16-59C>A | |
| ENST00000381083.9:c.*16-59C>A | ENSP00000370473.4:n.*16-59C>A | |
| ENST00000275521.10:c.*16-59C>A | ENSP00000275521.5:n.*16-59C>A | |
| ENST00000381083.8:c.*16-59C>A | ENSP00000370473.4:n.*16-59C>A | |
| ENST00000381086.9:c.*16-59C>A | ENSP00000370476.4:n.*16-59C>A | |
| ENST00000460209.1:n.522-59C>A | ||
| ENST00000613132.4:c.829-59C>A | ENSP00000477772.1:n.829-59C>A | |
| NM_000598.4:c.*16-59C>A | NP_000589.2:n.*16-59C>A | |
| NM_001013398.1:c.*16-59C>A | NP_001013416.1:n.*16-59C>A | |
| NM_001013398.2:c.*16-59C>A | NP_001013416.1:n.*16-59C>A | |
| NM_000598.5:c.*16-59C>A MANE Select | NP_000589.2:n.*16-59C>A |