Linked Data
ClinVar Variation Id:
308828
ClinVar RCV Id:
RCV000339222
dbSNP Id:
rs2853562
gnomAD v2:
12-48236386-T-A
gnomAD v3:
12-47842603-T-A
gnomAD v4:
12-47842603-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47842603T>A , CM000674.2:g.47842603T>A | GRCh38 |
| NC_000012.11:g.48236386T>A , CM000674.1:g.48236386T>A | GRCh37 |
| NC_000012.10:g.46522653T>A | NCBI36 |
| NG_008731.1:g.67429A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549336.6:c.*2143A>T MANE Select | ENSP00000449573.2:n.*2143A>T | |
| ENST00000229022.7:c.*2143A>T | ENSP00000229022.3:n.*2143A>T | |
| ENST00000395324.6:c.*2143A>T | ENSP00000378734.2:n.*2143A>T | |
| ENST00000549336.5:c.*2143A>T | ENSP00000449573.1:n.*2143A>T | |
| NM_000376.2:c.*2143A>T | NP_000367.1:n.*2143A>T | |
| NM_001017535.1:c.*2143A>T | NP_001017535.1:n.*2143A>T | |
| NM_001017536.1:c.*2143A>T | NP_001017536.1:n.*2143A>T | |
| NM_001364085.1:c.*1942A>T | NP_001351014.1:n.*1942A>T | |
| NM_000376.3:c.*2143A>T MANE Select | NP_000367.1:n.*2143A>T | |
| NM_001017535.2:c.*2143A>T | NP_001017535.1:n.*2143A>T | |
| NM_001017536.2:c.*2143A>T | NP_001017536.1:n.*2143A>T | |
| NM_001364085.2:c.*1942A>T | NP_001351014.1:n.*1942A>T | |
| NM_001374661.1:c.*2143A>T | NP_001361590.1:n.*2143A>T | |
| NM_001374662.1:c.*2143A>T | NP_001361591.1:n.*2143A>T |