Linked Data
dbSNP Id:
rs34517613
gnomAD v2:
17-26610252-C-T
gnomAD v3:
17-28283226-C-T
gnomAD v4:
17-28283226-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28283226C>T , CM000679.2:g.28283226C>T | GRCh38 |
| NC_000017.10:g.26610252C>T , CM000679.1:g.26610252C>T | GRCh37 |
| NC_000017.9:g.23634379C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000577198.5:n.525-5815G>A | ||
| ENST00000578578.5:n.254-5889G>A | ||
| ENST00000581956.1:n.469-5815G>A | ||
| NR_028334.1:n.525-5815G>A |