Linked Data
ClinVar Variation Id:
308873
ClinVar RCV Id:
RCV000300530
dbSNP Id:
rs886049436
gnomAD v3:
12-47844676-G-A
gnomAD v4:
12-47844676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47844676G>A , CM000674.2:g.47844676G>A | GRCh38 |
| NC_000012.11:g.48238459G>A , CM000674.1:g.48238459G>A | GRCh37 |
| NC_000012.10:g.46524726G>A | NCBI36 |
| NG_008731.1:g.65356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229022.9:c.1354C>T | ENSP00000229022.5:p.Arg452Trp | |
| ENST00000549336.6:c.*70C>T MANE Select | ENSP00000449573.2:n.*70C>T | |
| ENST00000229022.7:c.*70C>T | ENSP00000229022.3:n.*70C>T | |
| ENST00000395324.6:c.*70C>T | ENSP00000378734.2:n.*70C>T | |
| ENST00000547065.1:c.*1356C>T | ENSP00000449074.1:n.*1356C>T | |
| ENST00000549336.5:c.*70C>T | ENSP00000449573.1:n.*70C>T | |
| ENST00000550325.5:c.*70C>T | ENSP00000447173.1:n.*70C>T | |
| NM_000376.2:c.*70C>T | NP_000367.1:n.*70C>T | |
| NM_001017535.1:c.*70C>T | NP_001017535.1:n.*70C>T | |
| NM_001017536.1:c.*70C>T | NP_001017536.1:n.*70C>T | |
| XM_006719587.2:c.*70C>T | XP_006719650.1:n.*70C>T | |
| XM_011538720.1:c.*70C>T | XP_011537022.1:n.*70C>T | |
| NM_001364085.1:c.1354C>T | NP_001351014.1:p.Arg452Trp | |
| NM_000376.3:c.*70C>T MANE Select | NP_000367.1:n.*70C>T | |
| NM_001017535.2:c.*70C>T | NP_001017535.1:n.*70C>T | |
| NM_001017536.2:c.*70C>T | NP_001017536.1:n.*70C>T | |
| NM_001364085.2:c.1354C>T | NP_001351014.1:p.Arg452Trp | |
| NM_001374661.1:c.*70C>T | NP_001361590.1:n.*70C>T | |
| NM_001374662.1:c.*70C>T | NP_001361591.1:n.*70C>T |