Linked Data
ClinVar Variation Id:
301377
ClinVar RCV Id:
RCV000397641
dbSNP Id:
rs886047370
gnomAD v3:
10-87050481-G-A
gnomAD v4:
10-87050481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87050481G>A , CM000672.2:g.87050481G>A | GRCh38 |
| NC_000010.10:g.88810238G>A , CM000672.1:g.88810238G>A | GRCh37 |
| NC_000010.9:g.88800218G>A | NCBI36 |
| NG_013010.1:g.49539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000277865.5:c.*1270C>T MANE Select | ENSP00000277865.4:n.*1270C>T | |
| NM_005271.3:c.*1270C>T | NP_005262.1:n.*1270C>T | |
| NM_001318900.1:c.*1270C>T | NP_001305829.1:n.*1270C>T | |
| NM_001318901.1:c.*1270C>T | NP_001305830.1:n.*1270C>T | |
| NM_001318902.1:c.*1270C>T | NP_001305831.1:n.*1270C>T | |
| NM_001318904.1:c.*1270C>T | NP_001305833.1:n.*1270C>T | |
| NM_001318905.1:c.*1270C>T | NP_001305834.1:n.*1270C>T | |
| NM_001318906.1:c.*1270C>T | NP_001305835.1:n.*1270C>T | |
| NM_005271.4:c.*1270C>T | NP_005262.1:n.*1270C>T | |
| NM_005271.5:c.*1270C>T MANE Select | NP_005262.1:n.*1270C>T | |
| NM_001318904.2:c.*1270C>T | NP_001305833.1:n.*1270C>T | |
| NM_001318905.2:c.*1270C>T | NP_001305834.1:n.*1270C>T | |
| NM_001318906.2:c.*1270C>T | NP_001305835.1:n.*1270C>T |