Linked Data
ClinVar Variation Id:
1005457
dbSNP Id:
rs536607503
ExAC:
2:238244889 C / T
gnomAD v2:
2-238244889-C-T
gnomAD v3:
2-237336246-C-T
gnomAD v4:
2-237336246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336246C>T , CM000664.2:g.237336246C>T | GRCh38 |
| NC_000002.11:g.238244889C>T , CM000664.1:g.238244889C>T | GRCh37 |
| NC_000002.10:g.237909628C>T | NCBI36 |
| NG_008676.1:g.82962G>A , LRG_473:g.82962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1499G>A | ||
| ENST00000353578.9:c.8236G>A | ENSP00000315873.4:p.Val2746Ile | |
| ENST00000682957.1:c.981G>A | ||
| ENST00000684508.1:n.1121G>A | ||
| ENST00000295550.9:c.8854G>A MANE Select | ENSP00000295550.4:p.Val2952Ile | |
| ENST00000295550.8:c.8854G>A | ENSP00000295550.4:p.Val2952Ile | |
| ENST00000347401.7:c.7030G>A | ENSP00000315609.4:p.Val2344Ile | |
| ENST00000353578.8:c.8236G>A | ENSP00000315873.4:p.Val2746Ile | |
| ENST00000409809.5:c.8236G>A | ENSP00000386844.1:p.Val2746Ile | |
| ENST00000472056.5:c.7033G>A | ENSP00000418285.1:p.Val2345Ile | |
| ENST00000491769.1:n.5296G>A | ||
| NM_004369.3:c.8854G>A , LRG_473t1:c.8854G>A | NP_004360.2:p.Val2952Ile | |
| NM_057166.4:c.7033G>A | NP_476507.3:p.Val2345Ile | |
| NM_057167.3:c.8236G>A | NP_476508.2:p.Val2746Ile | |
| XM_005246065.1:c.8254G>A | XP_005246122.1:p.Val2752Ile | |
| XM_005246066.1:c.7633G>A | XP_005246123.1:p.Val2545Ile | |
| XM_006712253.1:c.8353G>A | XP_006712316.1:p.Val2785Ile | |
| XM_011510574.1:c.8851G>A | XP_011508876.1:p.Val2951Ile | |
| XM_011510575.1:c.6448G>A | XP_011508877.1:p.Val2150Ile | |
| XM_017003304.1:c.6448G>A | XP_016858793.1:p.Val2150Ile | |
| XM_024452684.1:c.7633G>A | XP_024308452.1:p.Val2545Ile | |
| NM_004369.4:c.8854G>A MANE Select | NP_004360.2:p.Val2952Ile | |
| NM_057166.5:c.7033G>A | NP_476507.3:p.Val2345Ile | |
| NM_057167.4:c.8236G>A | NP_476508.2:p.Val2746Ile |