Linked Data
dbSNP Id:
rs7129220
gnomAD v2:
11-10350538-G-A
gnomAD v3:
11-10328991-G-A
gnomAD v4:
11-10328991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10328991G>A , CM000673.2:g.10328991G>A | GRCh38 |
| NC_000011.9:g.10350538G>A , CM000673.1:g.10350538G>A | GRCh37 |
| NC_000011.8:g.10307114G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527261.5:n.362-1579G>A | ||
| ENST00000532250.5:c.-145-1579G>A | ENSP00000432707.1:n.-145-1579G>A | |
| NR_103765.1:n.362-1579G>A |