Linked Data
dbSNP Id:
rs11066453
gnomAD v2:
12-113365621-A-G
gnomAD v3:
12-112927816-A-G
gnomAD v4:
12-112927816-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112927816A>G , CM000674.2:g.112927816A>G | GRCh38 |
| NC_000012.11:g.113365621A>G , CM000674.1:g.113365621A>G | GRCh37 |
| NC_000012.10:g.111850004A>G | NCBI36 |
| NG_011530.2:g.25883A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540589.3:c.1168-4062A>G | ENSP00000474083.2:n.1168-4062A>G | |
| ENST00000551241.6:c.1039-4062A>G | ENSP00000448790.1:n.1039-4062A>G | |
| ENST00000552526.2:c.1083-4062A>G | ENSP00000475139.2:n.1083-4062A>G | |
| ENST00000540589.2:c.131-4062A>G | ||
| ENST00000551241.5:c.1039-4062A>G | ENSP00000448790.1:n.1039-4062A>G | |
| ENST00000552526.1:c.45-4062A>G | ENSP00000475139.1:n.45-4062A>G | |
| XM_011538414.1:c.1039-4062A>G | XP_011536716.1:n.1039-4062A>G | |
| NM_001320151.1:c.1039-4062A>G | NP_001307080.1:n.1039-4062A>G | |
| NM_001320151.2:c.1039-4062A>G | NP_001307080.1:n.1039-4062A>G |