Linked Data
dbSNP Id:
rs6484218
gnomAD v2:
11-10390581-G-A
gnomAD v3:
11-10369034-G-A
gnomAD v4:
11-10369034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10369034G>A , CM000673.2:g.10369034G>A | GRCh38 |
| NC_000011.9:g.10390581G>A , CM000673.1:g.10390581G>A | GRCh37 |
| NC_000011.8:g.10347157G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295663.9:n.51-23248G>A | ||
| ENST00000527261.5:n.501+38325G>A | ||
| ENST00000532250.5:c.-6+38325G>A | ENSP00000432707.1:n.-6+38325G>A | |
| ENST00000532966.1:n.119+11643G>A | ||
| NR_103765.1:n.501+38325G>A |