Linked Data
dbSNP Id:
rs1000597076
gnomAD v2:
16-11375367-G-A
gnomAD v3:
16-11281510-G-A
gnomAD v4:
16-11281510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281510G>A , CM000678.2:g.11281510G>A | GRCh38 |
| NC_000016.9:g.11375367G>A , CM000678.1:g.11375367G>A | GRCh37 |
| NC_000016.8:g.11282868G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649869.1:n.152+31732G>A | ||
| ENST00000572173.1:c.-515-13706G>A | ENSP00000461206.1:n.-515-13706G>A | |
| ENST00000573910.1:n.160+31732G>A | ||
| XR_933070.1:n.733+31732G>A | ||
| XR_933070.3:n.876+31732G>A |