Linked Data
dbSNP Id:
rs12274192
gnomAD v2:
11-116652351-A-G
gnomAD v3:
11-116781635-A-G
gnomAD v4:
11-116781635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116781635A>G , CM000673.2:g.116781635A>G | GRCh38 |
| NC_000011.9:g.116652351A>G , CM000673.1:g.116652351A>G | GRCh37 |
| NC_000011.8:g.116157561A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.1179+523T>C MANE Select | ENSP00000227322.3:n.1179+523T>C | |
| ENST00000227322.7:c.1179+523T>C | ENSP00000227322.3:n.1179+523T>C | |
| ENST00000429220.5:c.958+523T>C | ||
| ENST00000444935.5:c.1091+1284T>C | ||
| NM_003904.3:c.1179+523T>C | NP_003895.1:n.1179+523T>C | |
| NM_001317086.1:c.1017+523T>C | NP_001304015.1:n.1017+523T>C | |
| NM_003904.4:c.1179+523T>C | NP_003895.1:n.1179+523T>C | |
| XR_001748023.2:n.2507+523T>C | ||
| NM_003904.5:c.1179+523T>C MANE Select | NP_003895.1:n.1179+523T>C | |
| NM_001317086.2:c.1017+523T>C | NP_001304015.1:n.1017+523T>C |