Linked Data
dbSNP Id:
rs1077858
gnomAD v2:
11-74901601-G-A
gnomAD v3:
11-75190556-G-A
gnomAD v4:
11-75190556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75190556G>A , CM000673.2:g.75190556G>A | GRCh38 |
| NC_000011.9:g.74901601G>A , CM000673.1:g.74901601G>A | GRCh37 |
| NC_000011.8:g.74579249G>A | NCBI36 |
| NG_027921.1:g.44570G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289575.10:c.1075+2318G>A MANE Select | ENSP00000289575.5:n.1075+2318G>A | |
| ENST00000289575.9:c.1075+2318G>A | ENSP00000289575.5:n.1075+2318G>A | |
| ENST00000428359.6:c.1009+2318G>A | ENSP00000388912.2:n.1009+2318G>A | |
| ENST00000454962.6:c.394+2318G>A | ENSP00000389653.2:n.394+2318G>A | |
| ENST00000525650.5:c.643+2318G>A | ENSP00000436324.1:n.643+2318G>A | |
| ENST00000531756.5:n.622+2318G>A | ||
| ENST00000532236.5:c.727+2318G>A | ENSP00000434112.1:n.727+2318G>A | |
| NM_001145211.2:c.1009+2318G>A | NP_001138683.1:n.1009+2318G>A | |
| NM_001145212.2:c.643+2318G>A | NP_001138684.1:n.643+2318G>A | |
| NM_007256.4:c.1075+2318G>A | NP_009187.1:n.1075+2318G>A | |
| XM_017017157.1:c.1081+2318G>A | XP_016872646.1:n.1081+2318G>A | |
| NM_001145211.3:c.1009+2318G>A | NP_001138683.1:n.1009+2318G>A | |
| NM_001145212.3:c.643+2318G>A | NP_001138684.1:n.643+2318G>A | |
| NM_007256.5:c.1075+2318G>A MANE Select | NP_009187.1:n.1075+2318G>A |