Linked Data
dbSNP Id:
rs11213809
gnomAD v2:
11-111135745-A-G
gnomAD v3:
11-111265020-A-G
gnomAD v4:
11-111265020-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111265020A>G , CM000673.2:g.111265020A>G | GRCh38 |
| NC_000011.9:g.111135745A>G , CM000673.1:g.111135745A>G | GRCh37 |
| NC_000011.8:g.110640955A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280325.7:c.120+8928A>G MANE Select | ENSP00000280325.6:n.120+8928A>G | |
| ENST00000280325.6:c.120+8928A>G | ENSP00000280325.6:n.120+8928A>G | |
| ENST00000635886.1:c.120+8928A>G | ENSP00000489980.1:n.120+8928A>G | |
| ENST00000637637.1:c.-37+8928A>G | ENSP00000489630.1:n.-37+8928A>G | |
| ENST00000667535.1:n.110+8928A>G | ||
| ENST00000280325.4:c.-37+8928A>G | ENSP00000280325.4:n.-37+8928A>G | |
| NM_198498.2:c.-37+8928A>G | NP_940900.1:n.-37+8928A>G | |
| XM_011542803.1:c.120+8928A>G | XP_011541105.1:n.120+8928A>G | |
| XM_011542803.2:c.120+8928A>G | XP_011541105.1:n.120+8928A>G | |
| NM_198498.3:c.120+8928A>G MANE Select | NP_940900.2:n.120+8928A>G |