Linked Data
ClinVar Variation Id:
41517
dbSNP Id:
rs199688874
ExAC:
5:112179179 G / A
gnomAD v2:
5-112179179-G-A
gnomAD v3:
5-112843482-G-A
gnomAD v4:
5-112843482-G-A
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843482G>A , CM000667.2:g.112843482G>A | GRCh38 |
| NC_000005.9:g.112179179G>A , CM000667.1:g.112179179G>A | GRCh37 |
| NC_000005.8:g.112207078G>A | NCBI36 |
| NG_008481.4:g.155962G>A , LRG_130:g.155962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7942G>A | ENSP00000473355.2:p.Val2648Ile | |
| ENST00000505350.2:c.*7894G>A | ENSP00000481752.1:n.*7894G>A | |
| ENST00000507379.6:c.7834G>A | ENSP00000423224.2:p.Val2612Ile | |
| ENST00000509732.6:c.7888G>A | ENSP00000426541.2:p.Val2630Ile | |
| ENST00000512211.7:c.7888G>A | ENSP00000423828.3:p.Val2630Ile | |
| ENST00000257430.9:c.7888G>A MANE Select | ENSP00000257430.4:p.Val2630Ile | |
| ENST00000257430.8:c.7888G>A | ENSP00000257430.4:p.Val2630Ile | |
| ENST00000508376.6:c.7888G>A | ENSP00000427089.2:p.Val2630Ile | |
| ENST00000520401.1:c.231-13167G>A | ||
| NM_000038.5:c.7888G>A | NP_000029.2:p.Val2630Ile | |
| NM_001127510.2:c.7888G>A | NP_001120982.1:p.Val2630Ile | |
| NM_001127511.2:c.7834G>A | NP_001120983.2:p.Val2612Ile | |
| NM_001354895.1:c.7888G>A | NP_001341824.1:p.Val2630Ile | |
| NM_001354896.1:c.7942G>A | NP_001341825.1:p.Val2648Ile | |
| NM_001354897.1:c.7918G>A | NP_001341826.1:p.Val2640Ile | |
| NM_001354898.1:c.7813G>A | NP_001341827.1:p.Val2605Ile | |
| NM_001354899.1:c.7804G>A | NP_001341828.1:p.Val2602Ile | |
| NM_001354900.1:c.7765G>A | NP_001341829.1:p.Val2589Ile | |
| NM_001354901.1:c.7711G>A | NP_001341830.1:p.Val2571Ile | |
| NM_001354902.1:c.7615G>A | NP_001341831.1:p.Val2539Ile | |
| NM_001354903.1:c.7585G>A | NP_001341832.1:p.Val2529Ile | |
| NM_001354904.1:c.7510G>A | NP_001341833.1:p.Val2504Ile | |
| NM_001354905.1:c.7408G>A | NP_001341834.1:p.Val2470Ile | |
| NM_001354906.1:c.7039G>A | NP_001341835.1:p.Val2347Ile | |
| NM_000038.6:c.7888G>A MANE Select | NP_000029.2:p.Val2630Ile | |
| NM_001127510.3:c.7888G>A | NP_001120982.1:p.Val2630Ile | |
| NM_001127511.3:c.7834G>A | NP_001120983.2:p.Val2612Ile | |
| NM_001354895.2:c.7888G>A | NP_001341824.1:p.Val2630Ile | |
| NM_001354896.2:c.7942G>A | NP_001341825.1:p.Val2648Ile | |
| NM_001354897.2:c.7918G>A | NP_001341826.1:p.Val2640Ile | |
| NM_001354898.2:c.7813G>A | NP_001341827.1:p.Val2605Ile | |
| NM_001354899.2:c.7804G>A | NP_001341828.1:p.Val2602Ile | |
| NM_001354900.2:c.7765G>A | NP_001341829.1:p.Val2589Ile | |
| NM_001354901.2:c.7711G>A | NP_001341830.1:p.Val2571Ile | |
| NM_001354902.2:c.7615G>A | NP_001341831.1:p.Val2539Ile | |
| NM_001354903.2:c.7585G>A | NP_001341832.1:p.Val2529Ile | |
| NM_001354904.2:c.7510G>A | NP_001341833.1:p.Val2504Ile | |
| NM_001354905.2:c.7408G>A | NP_001341834.1:p.Val2470Ile | |
| NM_001354906.2:c.7039G>A | NP_001341835.1:p.Val2347Ile |