Linked Data
dbSNP Id:
rs911149249
gnomAD v2:
18-5857034-A-T
gnomAD v3:
18-5857035-A-T
gnomAD v4:
18-5857035-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.5857035A>T , CM000680.2:g.5857035A>T | GRCh38 |
| NC_000018.9:g.5857034A>T , CM000680.1:g.5857034A>T | GRCh37 |
| NC_000018.8:g.5847034A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_172494.1:n.603-21408A>T | ||
| NR_172495.1:n.603-19218A>T | ||
| NR_172496.1:n.603-19218A>T | ||
| NR_172497.1:n.603-19218A>T | ||
| NR_172498.1:n.663-10078A>T | ||
| NR_172499.1:n.603-19218A>T | ||
| NR_172500.1:n.603-19218A>T | ||
| NR_172501.1:n.603-19218A>T | ||
| NR_172502.1:n.603-19218A>T | ||
| NR_172503.1:n.603-19218A>T |