Linked Data
dbSNP Id:
rs1179641336
gnomAD v2:
8-11348899-G-T
gnomAD v3:
8-11491390-G-T
gnomAD v4:
8-11491390-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491390G>T , CM000670.2:g.11491390G>T | GRCh38 |
| NC_000008.10:g.11348899G>T , CM000670.1:g.11348899G>T | GRCh37 |
| NC_000008.9:g.11386308G>T | NCBI36 |
| NG_023543.1:g.2379G>T | |
| NG_023543.2:g.2379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4223G>T | ||
| ENST00000696154.1:c.-91+4223G>T | ENSP00000512445.1:n.-91+4223G>T | |
| ENST00000645242.1:c.-91+4223G>T | ENSP00000494690.1:n.-91+4223G>T |