Linked Data
ClinVar Variation Id:
283949
dbSNP Id:
rs374628435
ExAC:
2:238243368 C / T
gnomAD v2:
2-238243368-C-T
gnomAD v3:
2-237334725-C-T
gnomAD v4:
2-237334725-C-T
COSMIC:
COSM268045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334725C>T , CM000664.2:g.237334725C>T | GRCh38 |
| NC_000002.11:g.238243368C>T , CM000664.1:g.238243368C>T | GRCh37 |
| NC_000002.10:g.237908107C>T | NCBI36 |
| NG_008676.1:g.84483G>A , LRG_473:g.84483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1611-1177G>A | ||
| ENST00000353578.9:c.8512G>A | ENSP00000315873.4:p.Val2838Ile | |
| ENST00000682957.1:c.1257G>A | ||
| ENST00000295550.9:c.9130G>A MANE Select | ENSP00000295550.4:p.Val3044Ile | |
| ENST00000295550.8:c.9130G>A | ENSP00000295550.4:p.Val3044Ile | |
| ENST00000347401.7:c.7306G>A | ENSP00000315609.4:p.Val2436Ile | |
| ENST00000353578.8:c.8512G>A | ENSP00000315873.4:p.Val2838Ile | |
| ENST00000409809.5:c.8512G>A | ENSP00000386844.1:p.Val2838Ile | |
| ENST00000472056.5:c.7309G>A | ENSP00000418285.1:p.Val2437Ile | |
| ENST00000491769.1:n.5572G>A | ||
| ENST00000493608.1:n.62G>A | ||
| NM_004369.3:c.9130G>A , LRG_473t1:c.9130G>A | NP_004360.2:p.Val3044Ile | |
| NM_057166.4:c.7309G>A | NP_476507.3:p.Val2437Ile | |
| NM_057167.3:c.8512G>A | NP_476508.2:p.Val2838Ile | |
| XM_005246065.1:c.8530G>A | XP_005246122.1:p.Val2844Ile | |
| XM_005246066.1:c.7909G>A | XP_005246123.1:p.Val2637Ile | |
| XM_006712253.1:c.8629G>A | XP_006712316.1:p.Val2877Ile | |
| XM_011510574.1:c.9127G>A | XP_011508876.1:p.Val3043Ile | |
| XM_011510575.1:c.6724G>A | XP_011508877.1:p.Val2242Ile | |
| XM_017003304.1:c.6724G>A | XP_016858793.1:p.Val2242Ile | |
| XM_024452684.1:c.7909G>A | XP_024308452.1:p.Val2637Ile | |
| NM_004369.4:c.9130G>A MANE Select | NP_004360.2:p.Val3044Ile | |
| NM_057166.5:c.7309G>A | NP_476507.3:p.Val2437Ile | |
| NM_057167.4:c.8512G>A | NP_476508.2:p.Val2838Ile |