Linked Data
dbSNP Id:
rs552099776
gnomAD v2:
11-1909001-C-G
gnomAD v3:
11-1887771-C-G
gnomAD v4:
11-1887771-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887771C>G , CM000673.2:g.1887771C>G | GRCh38 |
| NC_000011.9:g.1909001C>G , CM000673.1:g.1909001C>G | GRCh37 |
| NC_000011.8:g.1865577C>G | NCBI36 |
| NG_011509.1:g.39802C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311604.8:c.*13+195C>G MANE Select | ENSP00000308383.4:n.*13+195C>G | |
| ENST00000311604.7:c.*13+195C>G | ENSP00000308383.3:n.*13+195C>G | |
| ENST00000381775.5:c.*13+195C>G | ENSP00000371194.1:n.*13+195C>G | |
| ENST00000405957.6:c.*13+195C>G | ENSP00000383932.2:n.*13+195C>G | |
| ENST00000406638.6:c.*13+195C>G | ENSP00000384022.2:n.*13+195C>G | |
| ENST00000485341.5:n.1529+195C>G | ||
| ENST00000612798.4:c.*13+195C>G | ENSP00000484140.1:n.*13+195C>G | |
| NM_001013253.1:c.*13+195C>G | NP_001013271.1:n.*13+195C>G | |
| NM_001013254.1:c.*13+195C>G | NP_001013272.1:n.*13+195C>G | |
| NM_001013255.1:c.*13+195C>G | NP_001013273.1:n.*13+195C>G | |
| NM_001242932.1:c.*13+195C>G | NP_001229861.1:n.*13+195C>G | |
| NM_001289005.1:c.*13+195C>G | NP_001275934.1:n.*13+195C>G | |
| NM_002339.2:c.*13+195C>G | NP_002330.1:n.*13+195C>G | |
| NM_001013253.2:c.*13+195C>G | NP_001013271.1:n.*13+195C>G | |
| NM_002339.3:c.*13+195C>G MANE Select | NP_002330.1:n.*13+195C>G | |
| NM_001242932.2:c.*13+195C>G | NP_001229861.1:n.*13+195C>G | |
| NM_001289005.2:c.*13+195C>G | NP_001275934.1:n.*13+195C>G |