Linked Data
dbSNP Id:
rs374209121
gnomAD v2:
7-152372687-G-A
gnomAD v3:
7-152675602-G-A
gnomAD v4:
7-152675602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152675602G>A , CM000669.2:g.152675602G>A | GRCh38 |
| NC_000007.13:g.152372687G>A , CM000669.1:g.152372687G>A | GRCh37 |
| NC_000007.12:g.152003620G>A | NCBI36 |
| NG_027988.1:g.5564C>T | |
| NG_027988.2:g.5564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-48+439C>T | ENSP00000513758.1:n.-48+439C>T | |
| ENST00000698507.1:n.107+439C>T | ||
| ENST00000359321.2:c.39+439C>T MANE Select | ENSP00000352271.1:n.39+439C>T | |
| ENST00000359321.1:c.39+439C>T | ENSP00000352271.1:n.39+439C>T | |
| NM_005431.1:c.39+439C>T | NP_005422.1:n.39+439C>T | |
| NM_005431.2:c.39+439C>T MANE Select | NP_005422.1:n.39+439C>T |