Linked Data
dbSNP Id:
rs1046178955
gnomAD v2:
12-113368461-C-G
gnomAD v3:
12-112930656-C-G
gnomAD v4:
12-112930656-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112930656C>G , CM000674.2:g.112930656C>G | GRCh38 |
| NC_000012.11:g.113368461C>G , CM000674.1:g.113368461C>G | GRCh37 |
| NC_000012.10:g.111852844C>G | NCBI36 |
| NG_011530.2:g.28723C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540589.3:c.1168-1222C>G | ENSP00000474083.2:n.1168-1222C>G | |
| ENST00000551241.6:c.1039-1222C>G | ENSP00000448790.1:n.1039-1222C>G | |
| ENST00000552526.2:c.1083-1222C>G | ENSP00000475139.2:n.1083-1222C>G | |
| ENST00000540589.2:c.131-1222C>G | ||
| ENST00000551241.5:c.1039-1222C>G | ENSP00000448790.1:n.1039-1222C>G | |
| ENST00000552526.1:c.45-1222C>G | ENSP00000475139.1:n.45-1222C>G | |
| XM_011538414.1:c.1039-1222C>G | XP_011536716.1:n.1039-1222C>G | |
| NM_001320151.1:c.1039-1222C>G | NP_001307080.1:n.1039-1222C>G | |
| NM_001320151.2:c.1039-1222C>G | NP_001307080.1:n.1039-1222C>G |