Linked Data
dbSNP Id:
rs11785599
gnomAD v2:
8-22892274-T-C
gnomAD v3:
8-23034761-T-C
gnomAD v4:
8-23034761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23034761T>C , CM000670.2:g.23034761T>C | GRCh38 |
| NC_000008.10:g.22892274T>C , CM000670.1:g.22892274T>C | GRCh37 |
| NC_000008.9:g.22948219T>C | NCBI36 |
| NG_012145.1:g.39427A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276431.9:c.251-3889A>G MANE Select | ENSP00000276431.4:n.251-3889A>G | |
| ENST00000276431.8:c.251-3889A>G | ENSP00000276431.4:n.251-3889A>G | |
| ENST00000347739.3:c.251-3889A>G | ENSP00000317859.3:n.251-3889A>G | |
| ENST00000519910.1:n.258-3889A>G | ||
| ENST00000523504.5:c.145-3889A>G | ENSP00000427999.1:n.145-3889A>G | |
| NM_003842.4:c.251-3889A>G | NP_003833.4:n.251-3889A>G | |
| NM_147187.2:c.251-3889A>G | NP_671716.2:n.251-3889A>G | |
| NR_027140.1:n.438-3889A>G | ||
| XR_949500.1:n.544-3889A>G | ||
| NM_003842.5:c.251-3889A>G MANE Select | NP_003833.4:n.251-3889A>G | |
| NM_147187.3:c.251-3889A>G | NP_671716.2:n.251-3889A>G | |
| NR_027140.2:n.282-3889A>G |