Linked Data
ClinVar Variation Id:
285594
dbSNP Id:
rs78427077
ExAC:
2:238283616 C / T
gnomAD v2:
2-238283616-C-T
gnomAD v3:
2-237374973-C-T
gnomAD v4:
2-237374973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237374973C>T , CM000664.2:g.237374973C>T | GRCh38 |
| NC_000002.11:g.238283616C>T , CM000664.1:g.238283616C>T | GRCh37 |
| NC_000002.10:g.237948355C>T | NCBI36 |
| NG_008676.1:g.44235G>A , LRG_473:g.44235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.2500G>A | ENSP00000315873.4:p.Val834Ile | |
| ENST00000295550.9:c.3118G>A MANE Select | ENSP00000295550.4:p.Val1040Ile | |
| ENST00000295550.8:c.3118G>A | ENSP00000295550.4:p.Val1040Ile | |
| ENST00000347401.7:c.1297G>A | ENSP00000315609.4:p.Val433Ile | |
| ENST00000353578.8:c.2500G>A | ENSP00000315873.4:p.Val834Ile | |
| ENST00000392003.6:c.1897G>A | ENSP00000375860.2:p.Val633Ile | |
| ENST00000392004.7:c.2500G>A | ENSP00000375861.3:p.Val834Ile | |
| ENST00000409809.5:c.2500G>A | ENSP00000386844.1:p.Val834Ile | |
| ENST00000472056.5:c.1297G>A | ENSP00000418285.1:p.Val433Ile | |
| NM_004369.3:c.3118G>A , LRG_473t1:c.3118G>A | NP_004360.2:p.Val1040Ile | |
| NM_057164.4:c.1897G>A | NP_476505.3:p.Val633Ile | |
| NM_057165.4:c.2500G>A | NP_476506.3:p.Val834Ile | |
| NM_057166.4:c.1297G>A | NP_476507.3:p.Val433Ile | |
| NM_057167.3:c.2500G>A | NP_476508.2:p.Val834Ile | |
| XM_005246065.1:c.2518G>A | XP_005246122.1:p.Val840Ile | |
| XM_005246066.1:c.1897G>A | XP_005246123.1:p.Val633Ile | |
| XM_006712253.1:c.3118G>A | XP_006712316.1:p.Val1040Ile | |
| XM_011510574.1:c.3118G>A | XP_011508876.1:p.Val1040Ile | |
| XM_011510575.1:c.712G>A | XP_011508877.1:p.Val238Ile | |
| XM_017003304.1:c.712G>A | XP_016858793.1:p.Val238Ile | |
| XM_024452684.1:c.1897G>A | XP_024308452.1:p.Val633Ile | |
| NM_004369.4:c.3118G>A MANE Select | NP_004360.2:p.Val1040Ile | |
| NM_057164.5:c.1897G>A | NP_476505.3:p.Val633Ile | |
| NM_057165.5:c.2500G>A | NP_476506.3:p.Val834Ile | |
| NM_057166.5:c.1297G>A | NP_476507.3:p.Val433Ile | |
| NM_057167.4:c.2500G>A | NP_476508.2:p.Val834Ile |