Linked Data
dbSNP Id:
rs1143770
gnomAD v2:
11-122017598-C-T
gnomAD v3:
11-122146890-C-T
gnomAD v4:
11-122146890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122146890C>T , CM000673.2:g.122146890C>T | GRCh38 |
| NC_000011.9:g.122017598C>T , CM000673.1:g.122017598C>T | GRCh37 |
| NC_000011.8:g.121522808C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_024430.1:n.444+8661G>A | ||
| NR_024430.2:n.491+8661G>A | ||
| NR_137179.1:n.445+8661G>A | ||
| NR_137180.1:n.503+8661G>A | ||
| NR_137181.1:n.409+33446G>A | ||
| NR_137182.1:n.491+8661G>A | ||
| NR_137183.1:n.379+8661G>A | ||
| NR_137184.1:n.297+33446G>A | ||
| NR_137185.1:n.379+8661G>A | ||
| NR_137186.1:n.267+8661G>A | ||
| NR_137187.1:n.267+8661G>A | ||
| NR_137188.1:n.357+8661G>A | ||
| NR_137192.1:n.676+33446G>A | ||
| NR_137193.1:n.503+8661G>A | ||
| NR_137194.1:n.357+8661G>A |