Linked Data
ClinVar Variation Id:
363171
ClinVar RCV Id:
RCV000399558
dbSNP Id:
rs373032953
gnomAD v2:
8-43056148-A-G
gnomAD v3:
8-43201005-A-G
gnomAD v4:
8-43201005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43201005A>G , CM000670.2:g.43201005A>G | GRCh38 |
| NC_000008.10:g.43056148A>G , CM000670.1:g.43056148A>G | GRCh37 |
| NC_000008.9:g.43175305A>G | NCBI36 |
| NG_009552.1:g.65557A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379644.9:c.*1436A>G MANE Select | ENSP00000368965.4:n.*1436A>G | |
| ENST00000379644.8:c.*1436A>G | ENSP00000368965.4:n.*1436A>G | |
| NM_152419.2:c.*1436A>G | NP_689632.2:n.*1436A>G | |
| XM_005273409.1:c.*1436A>G | XP_005273466.1:n.*1436A>G | |
| XM_005273410.1:c.*1436A>G | XP_005273467.1:n.*1436A>G | |
| XM_005273411.1:c.*1436A>G | XP_005273468.1:n.*1436A>G | |
| NM_001363227.1:c.*1436A>G | NP_001350156.1:n.*1436A>G | |
| NM_001363228.1:c.*1436A>G | NP_001350157.1:n.*1436A>G | |
| NM_001363229.1:c.*1436A>G | NP_001350158.1:n.*1436A>G | |
| NM_152419.3:c.*1436A>G MANE Select | NP_689632.2:n.*1436A>G | |
| NM_001363227.2:c.*1436A>G | NP_001350156.1:n.*1436A>G | |
| NM_001363228.2:c.*1436A>G | NP_001350157.1:n.*1436A>G | |
| NM_001363229.2:c.*1436A>G | NP_001350158.1:n.*1436A>G |