Linked Data
dbSNP Id:
rs4252314
gnomAD v2:
11-117868517-A-G
gnomAD v3:
11-117997802-A-G
gnomAD v4:
11-117997802-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117997802A>G , CM000673.2:g.117997802A>G | GRCh38 |
| NC_000011.9:g.117868517A>G , CM000673.1:g.117868517A>G | GRCh37 |
| NC_000011.8:g.117373727A>G | NCBI36 |
| NG_016275.1:g.16412A>G , LRG_151:g.16412A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525467.2:n.2598-913A>G | ||
| ENST00000696732.1:n.2660-913A>G | ||
| ENST00000227752.8:c.811-913A>G MANE Select | ENSP00000227752.4:n.811-913A>G | |
| ENST00000529924.6:n.2389-913A>G | ||
| ENST00000227752.7:c.811-913A>G | ENSP00000227752.3:n.811-913A>G | |
| ENST00000525467.1:n.753-913A>G | ||
| ENST00000526544.5:c.*347-913A>G | ENSP00000435317.1:n.*347-913A>G | |
| ENST00000529924.5:n.2389-913A>G | ||
| ENST00000530178.1:n.677-913A>G | ||
| ENST00000530761.5:n.1188-913A>G | ||
| ENST00000533700.5:n.1018-913A>G | ||
| ENST00000534574.5:c.*751-913A>G | ENSP00000436328.1:n.*751-913A>G | |
| NM_001558.3:c.811-913A>G , LRG_151t1:c.811-913A>G | NP_001549.2:n.811-913A>G | |
| NR_026691.1:n.1018-913A>G | ||
| XM_024448493.1:c.364-913A>G | XP_024304261.1:n.364-913A>G | |
| NM_001558.4:c.811-913A>G MANE Select | NP_001549.2:n.811-913A>G | |
| NR_026691.2:n.1015-913A>G |