Linked Data
ClinVar Variation Id:
308851
ClinVar RCV Id:
RCV000348475
dbSNP Id:
rs11574129
gnomAD v2:
12-48237303-A-G
gnomAD v3:
12-47843520-A-G
gnomAD v4:
12-47843520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47843520A>G , CM000674.2:g.47843520A>G | GRCh38 |
| NC_000012.11:g.48237303A>G , CM000674.1:g.48237303A>G | GRCh37 |
| NC_000012.10:g.46523570A>G | NCBI36 |
| NG_008731.1:g.66512T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.*1025T>C | ENSP00000229022.5:n.*1025T>C | |
| ENST00000549336.6:c.*1226T>C MANE Select | ENSP00000449573.2:n.*1226T>C | |
| ENST00000229022.7:c.*1226T>C | ENSP00000229022.3:n.*1226T>C | |
| ENST00000395324.6:c.*1226T>C | ENSP00000378734.2:n.*1226T>C | |
| ENST00000549336.5:c.*1226T>C | ENSP00000449573.1:n.*1226T>C | |
| ENST00000550325.5:c.*1226T>C | ENSP00000447173.1:n.*1226T>C | |
| NM_000376.2:c.*1226T>C | NP_000367.1:n.*1226T>C | |
| NM_001017535.1:c.*1226T>C | NP_001017535.1:n.*1226T>C | |
| NM_001017536.1:c.*1226T>C | NP_001017536.1:n.*1226T>C | |
| XM_006719587.2:c.*1226T>C | XP_006719650.1:n.*1226T>C | |
| XM_011538720.1:c.*1226T>C | XP_011537022.1:n.*1226T>C | |
| NM_001364085.1:c.*1025T>C | NP_001351014.1:n.*1025T>C | |
| NM_000376.3:c.*1226T>C MANE Select | NP_000367.1:n.*1226T>C | |
| NM_001017535.2:c.*1226T>C | NP_001017535.1:n.*1226T>C | |
| NM_001017536.2:c.*1226T>C | NP_001017536.1:n.*1226T>C | |
| NM_001364085.2:c.*1025T>C | NP_001351014.1:n.*1025T>C | |
| NM_001374661.1:c.*1226T>C | NP_001361590.1:n.*1226T>C | |
| NM_001374662.1:c.*1226T>C | NP_001361591.1:n.*1226T>C |