Linked Data
ClinVar Variation Id:
2786642
ClinVar RCV Id:
RCV003745740
dbSNP Id:
rs751299922
ExAC:
5:112179050 G / A
gnomAD v2:
5-112179050-G-A
gnomAD v4:
5-112843353-G-A
COSMIC:
COSM6475445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843353G>A , CM000667.2:g.112843353G>A | GRCh38 |
| NC_000005.9:g.112179050G>A , CM000667.1:g.112179050G>A | GRCh37 |
| NC_000005.8:g.112206949G>A | NCBI36 |
| NG_008481.4:g.155833G>A , LRG_130:g.155833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7813G>A | ENSP00000473355.2:p.Glu2605Lys | |
| ENST00000505350.2:c.*7765G>A | ENSP00000481752.1:n.*7765G>A | |
| ENST00000507379.6:c.7705G>A | ENSP00000423224.2:p.Glu2569Lys | |
| ENST00000509732.6:c.7759G>A | ENSP00000426541.2:p.Glu2587Lys | |
| ENST00000512211.7:c.7759G>A | ENSP00000423828.3:p.Glu2587Lys | |
| ENST00000257430.9:c.7759G>A MANE Select | ENSP00000257430.4:p.Glu2587Lys | |
| ENST00000257430.8:c.7759G>A | ENSP00000257430.4:p.Glu2587Lys | |
| ENST00000508376.6:c.7759G>A | ENSP00000427089.2:p.Glu2587Lys | |
| ENST00000520401.1:c.231-13296G>A | ||
| NM_000038.5:c.7759G>A | NP_000029.2:p.Glu2587Lys | |
| NM_001127510.2:c.7759G>A | NP_001120982.1:p.Glu2587Lys | |
| NM_001127511.2:c.7705G>A | NP_001120983.2:p.Glu2569Lys | |
| NM_001354895.1:c.7759G>A | NP_001341824.1:p.Glu2587Lys | |
| NM_001354896.1:c.7813G>A | NP_001341825.1:p.Glu2605Lys | |
| NM_001354897.1:c.7789G>A | NP_001341826.1:p.Glu2597Lys | |
| NM_001354898.1:c.7684G>A | NP_001341827.1:p.Glu2562Lys | |
| NM_001354899.1:c.7675G>A | NP_001341828.1:p.Glu2559Lys | |
| NM_001354900.1:c.7636G>A | NP_001341829.1:p.Glu2546Lys | |
| NM_001354901.1:c.7582G>A | NP_001341830.1:p.Glu2528Lys | |
| NM_001354902.1:c.7486G>A | NP_001341831.1:p.Glu2496Lys | |
| NM_001354903.1:c.7456G>A | NP_001341832.1:p.Glu2486Lys | |
| NM_001354904.1:c.7381G>A | NP_001341833.1:p.Glu2461Lys | |
| NM_001354905.1:c.7279G>A | NP_001341834.1:p.Glu2427Lys | |
| NM_001354906.1:c.6910G>A | NP_001341835.1:p.Glu2304Lys | |
| NM_000038.6:c.7759G>A MANE Select | NP_000029.2:p.Glu2587Lys | |
| NM_001127510.3:c.7759G>A | NP_001120982.1:p.Glu2587Lys | |
| NM_001127511.3:c.7705G>A | NP_001120983.2:p.Glu2569Lys | |
| NM_001354895.2:c.7759G>A | NP_001341824.1:p.Glu2587Lys | |
| NM_001354896.2:c.7813G>A | NP_001341825.1:p.Glu2605Lys | |
| NM_001354897.2:c.7789G>A | NP_001341826.1:p.Glu2597Lys | |
| NM_001354898.2:c.7684G>A | NP_001341827.1:p.Glu2562Lys | |
| NM_001354899.2:c.7675G>A | NP_001341828.1:p.Glu2559Lys | |
| NM_001354900.2:c.7636G>A | NP_001341829.1:p.Glu2546Lys | |
| NM_001354901.2:c.7582G>A | NP_001341830.1:p.Glu2528Lys | |
| NM_001354902.2:c.7486G>A | NP_001341831.1:p.Glu2496Lys | |
| NM_001354903.2:c.7456G>A | NP_001341832.1:p.Glu2486Lys | |
| NM_001354904.2:c.7381G>A | NP_001341833.1:p.Glu2461Lys | |
| NM_001354905.2:c.7279G>A | NP_001341834.1:p.Glu2427Lys | |
| NM_001354906.2:c.6910G>A | NP_001341835.1:p.Glu2304Lys |