Linked Data
dbSNP Id:
rs570340657
gnomAD v2:
8-22892300-C-T
gnomAD v3:
8-23034787-C-T
gnomAD v4:
8-23034787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23034787C>T , CM000670.2:g.23034787C>T | GRCh38 |
| NC_000008.10:g.22892300C>T , CM000670.1:g.22892300C>T | GRCh37 |
| NC_000008.9:g.22948245C>T | NCBI36 |
| NG_012145.1:g.39401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276431.9:c.251-3915G>A MANE Select | ENSP00000276431.4:n.251-3915G>A | |
| ENST00000276431.8:c.251-3915G>A | ENSP00000276431.4:n.251-3915G>A | |
| ENST00000347739.3:c.251-3915G>A | ENSP00000317859.3:n.251-3915G>A | |
| ENST00000519910.1:n.258-3915G>A | ||
| ENST00000523504.5:c.145-3915G>A | ENSP00000427999.1:n.145-3915G>A | |
| NM_003842.4:c.251-3915G>A | NP_003833.4:n.251-3915G>A | |
| NM_147187.2:c.251-3915G>A | NP_671716.2:n.251-3915G>A | |
| NR_027140.1:n.438-3915G>A | ||
| XR_949500.1:n.544-3915G>A | ||
| NM_003842.5:c.251-3915G>A MANE Select | NP_003833.4:n.251-3915G>A | |
| NM_147187.3:c.251-3915G>A | NP_671716.2:n.251-3915G>A | |
| NR_027140.2:n.282-3915G>A |