Linked Data
ClinVar Variation Id:
296049
dbSNP Id:
rs12565212
gnomAD v2:
1-227175228-A-G
gnomAD v3:
1-226987527-A-G
gnomAD v4:
1-226987527-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226987527A>G , CM000663.2:g.226987527A>G | GRCh38 |
| NC_000001.10:g.227175228A>G , CM000663.1:g.227175228A>G | GRCh37 |
| NC_000001.9:g.225241851A>G | NCBI36 |
| NG_012825.1:g.52291A>G | |
| NG_012825.2:g.94992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.*790A>G MANE Select | ENSP00000355739.3:n.*790A>G | |
| ENST00000366779.6:c.*7461A>G | ENSP00000355741.2:n.*7461A>G | |
| ENST00000366777.3:c.*790A>G | ENSP00000355739.3:n.*790A>G | |
| ENST00000366778.5:c.*790A>G | ENSP00000355740.1:n.*790A>G | |
| ENST00000366779.5:c.*790A>G | ENSP00000355741.1:n.*790A>G | |
| ENST00000478406.5:n.3596A>G | ||
| ENST00000479852.1:n.1921A>G | ||
| ENST00000485462.5:n.2124A>G | ||
| NM_020247.4:c.*790A>G | NP_064632.2:n.*790A>G | |
| XM_005273201.1:c.*790A>G | XP_005273258.1:n.*790A>G | |
| XM_011544238.1:c.*790A>G | XP_011542540.1:n.*790A>G | |
| XM_011544239.1:c.*790A>G | XP_011542541.1:n.*790A>G | |
| XM_011544240.1:c.*790A>G | XP_011542542.1:n.*790A>G | |
| XM_011544241.1:c.*790A>G | XP_011542543.1:n.*790A>G | |
| XM_011544239.2:c.*790A>G | XP_011542541.1:n.*790A>G | |
| XM_011544241.2:c.*790A>G | XP_011542543.1:n.*790A>G | |
| XM_017001852.1:c.*790A>G | XP_016857341.1:n.*790A>G | |
| XM_024448517.1:c.*790A>G | XP_024304285.1:n.*790A>G | |
| XM_024448518.1:c.*790A>G | XP_024304286.1:n.*790A>G | |
| NM_020247.5:c.*790A>G MANE Select | NP_064632.2:n.*790A>G |