Linked Data
dbSNP Id:
rs766218058
ExAC:
7:152373183 C / A
gnomAD v2:
7-152373183-C-A
gnomAD v4:
7-152676098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676098C>A , CM000669.2:g.152676098C>A | GRCh38 |
| NC_000007.13:g.152373183C>A , CM000669.1:g.152373183C>A | GRCh37 |
| NC_000007.12:g.152004116C>A | NCBI36 |
| NG_027988.1:g.5068G>T | |
| NG_027988.2:g.5068G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-105G>T | ENSP00000513758.1:n.-105G>T | |
| ENST00000698507.1:n.50G>T | ||
| ENST00000359321.2:c.-19G>T MANE Select | ENSP00000352271.1:n.-19G>T | |
| ENST00000359321.1:c.-19G>T | ENSP00000352271.1:n.-19G>T | |
| NM_005431.1:c.-19G>T | NP_005422.1:n.-19G>T | |
| NM_005431.2:c.-19G>T MANE Select | NP_005422.1:n.-19G>T |