Linked Data
ClinVar Variation Id:
542997
dbSNP Id:
rs576798969
ExAC:
2:238283460 C / T
gnomAD v2:
2-238283460-C-T
gnomAD v3:
2-237374817-C-T
gnomAD v4:
2-237374817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237374817C>T , CM000664.2:g.237374817C>T | GRCh38 |
| NC_000002.11:g.238283460C>T , CM000664.1:g.238283460C>T | GRCh37 |
| NC_000002.10:g.237948199C>T | NCBI36 |
| NG_008676.1:g.44391G>A , LRG_473:g.44391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.2656G>A | ENSP00000315873.4:p.Val886Ile | |
| ENST00000295550.9:c.3274G>A MANE Select | ENSP00000295550.4:p.Val1092Ile | |
| ENST00000295550.8:c.3274G>A | ENSP00000295550.4:p.Val1092Ile | |
| ENST00000347401.7:c.1453G>A | ENSP00000315609.4:p.Val485Ile | |
| ENST00000353578.8:c.2656G>A | ENSP00000315873.4:p.Val886Ile | |
| ENST00000392003.6:c.2053G>A | ENSP00000375860.2:p.Val685Ile | |
| ENST00000392004.7:c.2656G>A | ENSP00000375861.3:p.Val886Ile | |
| ENST00000409809.5:c.2656G>A | ENSP00000386844.1:p.Val886Ile | |
| ENST00000472056.5:c.1453G>A | ENSP00000418285.1:p.Val485Ile | |
| NM_004369.3:c.3274G>A , LRG_473t1:c.3274G>A | NP_004360.2:p.Val1092Ile | |
| NM_057164.4:c.2053G>A | NP_476505.3:p.Val685Ile | |
| NM_057165.4:c.2656G>A | NP_476506.3:p.Val886Ile | |
| NM_057166.4:c.1453G>A | NP_476507.3:p.Val485Ile | |
| NM_057167.3:c.2656G>A | NP_476508.2:p.Val886Ile | |
| XM_005246065.1:c.2674G>A | XP_005246122.1:p.Val892Ile | |
| XM_005246066.1:c.2053G>A | XP_005246123.1:p.Val685Ile | |
| XM_006712253.1:c.3274G>A | XP_006712316.1:p.Val1092Ile | |
| XM_011510574.1:c.3274G>A | XP_011508876.1:p.Val1092Ile | |
| XM_011510575.1:c.868G>A | XP_011508877.1:p.Val290Ile | |
| XM_017003304.1:c.868G>A | XP_016858793.1:p.Val290Ile | |
| XM_024452684.1:c.2053G>A | XP_024308452.1:p.Val685Ile | |
| NM_004369.4:c.3274G>A MANE Select | NP_004360.2:p.Val1092Ile | |
| NM_057164.5:c.2053G>A | NP_476505.3:p.Val685Ile | |
| NM_057165.5:c.2656G>A | NP_476506.3:p.Val886Ile | |
| NM_057166.5:c.1453G>A | NP_476507.3:p.Val485Ile | |
| NM_057167.4:c.2656G>A | NP_476508.2:p.Val886Ile |