Linked Data
ClinVar Variation Id:
350262
dbSNP Id:
rs544
gnomAD v2:
5-10264962-A-G
gnomAD v3:
5-10264850-A-G
gnomAD v4:
5-10264850-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10264850A>G , CM000667.2:g.10264850A>G | GRCh38 |
| NC_000005.9:g.10264962A>G , CM000667.1:g.10264962A>G | GRCh37 |
| NC_000005.8:g.10317962A>G | NCBI36 |
| NG_012160.1:g.19681A>G , LRG_361:g.19681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.*67A>G MANE Select | ENSP00000280326.4:n.*67A>G | |
| ENST00000280326.8:c.*67A>G | ENSP00000280326.4:n.*67A>G | |
| ENST00000503026.5:c.*67A>G | ENSP00000423318.1:n.*67A>G | |
| ENST00000506600.1:c.*67A>G | ENSP00000423052.1:n.*67A>G | |
| ENST00000511995.1:n.1020A>G | ||
| ENST00000515390.5:c.*67A>G | ENSP00000426923.1:n.*67A>G | |
| ENST00000515676.5:c.*67A>G | ENSP00000427297.1:n.*67A>G | |
| NM_001306153.1:c.*67A>G | NP_001293082.1:n.*67A>G | |
| NM_001306154.1:c.*67A>G | NP_001293083.1:n.*67A>G | |
| NM_001306155.1:c.*67A>G | NP_001293084.1:n.*67A>G | |
| NM_001306156.1:c.*67A>G | NP_001293085.1:n.*67A>G | |
| NM_012073.3:c.*67A>G , LRG_361t1:c.*67A>G | NP_036205.1:n.*67A>G | |
| NM_012073.4:c.*67A>G | NP_036205.1:n.*67A>G | |
| NM_012073.5:c.*67A>G MANE Select | NP_036205.1:n.*67A>G | |
| NM_001306154.2:c.*67A>G | NP_001293083.1:n.*67A>G | |
| NM_001306155.2:c.*67A>G | NP_001293084.1:n.*67A>G | |
| NM_001306156.2:c.*67A>G | NP_001293085.1:n.*67A>G |