Linked Data
ClinVar Variation Id:
348918
dbSNP Id:
rs566508858
gnomAD v2:
4-55161973-A-G
gnomAD v3:
4-54295806-A-G
gnomAD v4:
4-54295806-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54295806A>G , CM000666.2:g.54295806A>G | GRCh38 |
| NC_000004.11:g.55161973A>G , CM000666.1:g.55161973A>G | GRCh37 |
| NC_000004.10:g.54856730A>G | NCBI36 |
| NG_009250.1:g.71710A>G , LRG_309:g.71710A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.*534A>G MANE Select | ENSP00000257290.5:n.*534A>G | |
| ENST00000257290.9:c.*534A>G | ENSP00000257290.5:n.*534A>G | |
| NM_006206.4:c.*534A>G , LRG_309t1:c.*534A>G | NP_006197.1:n.*534A>G | |
| XM_005265743.1:c.*534A>G | XP_005265800.1:n.*534A>G | |
| XM_006714039.2:c.*534A>G | XP_006714102.1:n.*534A>G | |
| XM_011534385.1:c.*534A>G | XP_011532687.1:n.*534A>G | |
| XM_011534386.1:c.*534A>G | XP_011532688.1:n.*534A>G | |
| NM_001347828.1:c.*534A>G | NP_001334757.1:n.*534A>G | |
| NM_001347829.1:c.*534A>G | NP_001334758.1:n.*534A>G | |
| NM_001347830.1:c.*534A>G | NP_001334759.1:n.*534A>G | |
| NM_006206.5:c.*534A>G | NP_006197.1:n.*534A>G | |
| NM_006206.6:c.*534A>G MANE Select | NP_006197.1:n.*534A>G | |
| NM_001347828.2:c.*534A>G | NP_001334757.1:n.*534A>G | |
| NM_001347829.2:c.*534A>G | NP_001334758.1:n.*534A>G | |
| NM_001347830.2:c.*534A>G | NP_001334759.1:n.*534A>G |