Linked Data
ClinVar Variation Id:
308826
ClinVar RCV Id:
RCV000390720
dbSNP Id:
rs11574136
gnomAD v2:
12-48236303-G-A
gnomAD v3:
12-47842520-G-A
gnomAD v4:
12-47842520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47842520G>A , CM000674.2:g.47842520G>A | GRCh38 |
| NC_000012.11:g.48236303G>A , CM000674.1:g.48236303G>A | GRCh37 |
| NC_000012.10:g.46522570G>A | NCBI36 |
| NG_008731.1:g.67512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549336.6:c.*2226C>T MANE Select | ENSP00000449573.2:n.*2226C>T | |
| ENST00000229022.7:c.*2226C>T | ENSP00000229022.3:n.*2226C>T | |
| ENST00000395324.6:c.*2226C>T | ENSP00000378734.2:n.*2226C>T | |
| ENST00000549336.5:c.*2226C>T | ENSP00000449573.1:n.*2226C>T | |
| NM_000376.2:c.*2226C>T | NP_000367.1:n.*2226C>T | |
| NM_001017535.1:c.*2226C>T | NP_001017535.1:n.*2226C>T | |
| NM_001017536.1:c.*2226C>T | NP_001017536.1:n.*2226C>T | |
| NM_001364085.1:c.*2025C>T | NP_001351014.1:n.*2025C>T | |
| NM_000376.3:c.*2226C>T MANE Select | NP_000367.1:n.*2226C>T | |
| NM_001017535.2:c.*2226C>T | NP_001017535.1:n.*2226C>T | |
| NM_001017536.2:c.*2226C>T | NP_001017536.1:n.*2226C>T | |
| NM_001364085.2:c.*2025C>T | NP_001351014.1:n.*2025C>T | |
| NM_001374661.1:c.*2226C>T | NP_001361590.1:n.*2226C>T | |
| NM_001374662.1:c.*2226C>T | NP_001361591.1:n.*2226C>T |