Linked Data
ClinVar Variation Id:
363162
ClinVar RCV Id:
RCV000381686
dbSNP Id:
rs142422330
gnomAD v2:
8-43055849-C-T
gnomAD v3:
8-43200706-C-T
gnomAD v4:
8-43200706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43200706C>T , CM000670.2:g.43200706C>T | GRCh38 |
| NC_000008.10:g.43055849C>T , CM000670.1:g.43055849C>T | GRCh37 |
| NC_000008.9:g.43175006C>T | NCBI36 |
| NG_009552.1:g.65258C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379644.9:c.*1137C>T MANE Select | ENSP00000368965.4:n.*1137C>T | |
| ENST00000379644.8:c.*1137C>T | ENSP00000368965.4:n.*1137C>T | |
| NM_152419.2:c.*1137C>T | NP_689632.2:n.*1137C>T | |
| XM_005273409.1:c.*1137C>T | XP_005273466.1:n.*1137C>T | |
| XM_005273410.1:c.*1137C>T | XP_005273467.1:n.*1137C>T | |
| XM_005273411.1:c.*1137C>T | XP_005273468.1:n.*1137C>T | |
| NM_001363227.1:c.*1137C>T | NP_001350156.1:n.*1137C>T | |
| NM_001363228.1:c.*1137C>T | NP_001350157.1:n.*1137C>T | |
| NM_001363229.1:c.*1137C>T | NP_001350158.1:n.*1137C>T | |
| NM_152419.3:c.*1137C>T MANE Select | NP_689632.2:n.*1137C>T | |
| NM_001363227.2:c.*1137C>T | NP_001350156.1:n.*1137C>T | |
| NM_001363228.2:c.*1137C>T | NP_001350157.1:n.*1137C>T | |
| NM_001363229.2:c.*1137C>T | NP_001350158.1:n.*1137C>T |