Linked Data
dbSNP Id:
rs753157508
ExAC:
11:1908795 C / T
gnomAD v2:
11-1908795-C-T
gnomAD v3:
11-1887565-C-T
gnomAD v4:
11-1887565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887565C>T , CM000673.2:g.1887565C>T | GRCh38 |
| NC_000011.9:g.1908795C>T , CM000673.1:g.1908795C>T | GRCh37 |
| NC_000011.8:g.1865371C>T | NCBI36 |
| NG_011509.1:g.39596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311604.8:c.*2C>T MANE Select | ENSP00000308383.4:n.*2C>T | |
| ENST00000311604.7:c.*2C>T | ENSP00000308383.3:n.*2C>T | |
| ENST00000381775.5:c.*2C>T | ENSP00000371194.1:n.*2C>T | |
| ENST00000405957.6:c.*2C>T | ENSP00000383932.2:n.*2C>T | |
| ENST00000406638.6:c.*2C>T | ENSP00000384022.2:n.*2C>T | |
| ENST00000472974.5:n.892C>T | ||
| ENST00000485341.5:n.1518C>T | ||
| ENST00000612798.4:c.*2C>T | ENSP00000484140.1:n.*2C>T | |
| NM_001013253.1:c.*2C>T | NP_001013271.1:n.*2C>T | |
| NM_001013254.1:c.*2C>T | NP_001013272.1:n.*2C>T | |
| NM_001013255.1:c.*2C>T | NP_001013273.1:n.*2C>T | |
| NM_001242932.1:c.*2C>T | NP_001229861.1:n.*2C>T | |
| NM_001289005.1:c.*2C>T | NP_001275934.1:n.*2C>T | |
| NM_002339.2:c.*2C>T | NP_002330.1:n.*2C>T | |
| NM_001013253.2:c.*2C>T | NP_001013271.1:n.*2C>T | |
| NM_002339.3:c.*2C>T MANE Select | NP_002330.1:n.*2C>T | |
| NM_001242932.2:c.*2C>T | NP_001229861.1:n.*2C>T | |
| NM_001289005.2:c.*2C>T | NP_001275934.1:n.*2C>T |