Linked Data
dbSNP Id:
rs13239597
gnomAD v2:
7-128695983-C-A
gnomAD v3:
7-129055929-C-A
gnomAD v4:
7-129055929-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129055929C>A , CM000669.2:g.129055929C>A | GRCh38 |
| NC_000007.13:g.128695983C>A , CM000669.1:g.128695983C>A | GRCh37 |
| NC_000007.12:g.128483219C>A | NCBI36 |
| NG_023428.1:g.4245G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635637.1:n.707C>A | ||
| NR_002187.3:n.707C>A |