Linked Data
ClinVar Variation Id:
2746531
dbSNP Id:
rs1391922278
gnomAD v2:
5-112179058-A-G
gnomAD v4:
5-112843361-A-G
COSMIC:
COSM3726245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843361A>G , CM000667.2:g.112843361A>G | GRCh38 |
| NC_000005.9:g.112179058A>G , CM000667.1:g.112179058A>G | GRCh37 |
| NC_000005.8:g.112206957A>G | NCBI36 |
| NG_008481.4:g.155841A>G , LRG_130:g.155841A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7821A>G | ENSP00000473355.2:p.Glu2607= | |
| ENST00000505350.2:c.*7773A>G | ENSP00000481752.1:n.*7773A>G | |
| ENST00000507379.6:c.7713A>G | ENSP00000423224.2:p.Glu2571= | |
| ENST00000509732.6:c.7767A>G | ENSP00000426541.2:p.Glu2589= | |
| ENST00000512211.7:c.7767A>G | ENSP00000423828.3:p.Glu2589= | |
| ENST00000257430.9:c.7767A>G MANE Select | ENSP00000257430.4:p.Glu2589= | |
| ENST00000257430.8:c.7767A>G | ENSP00000257430.4:p.Glu2589= | |
| ENST00000508376.6:c.7767A>G | ENSP00000427089.2:p.Glu2589= | |
| ENST00000520401.1:c.231-13288A>G | ||
| NM_000038.5:c.7767A>G | NP_000029.2:p.Glu2589= | |
| NM_001127510.2:c.7767A>G | NP_001120982.1:p.Glu2589= | |
| NM_001127511.2:c.7713A>G | NP_001120983.2:p.Glu2571= | |
| NM_001354895.1:c.7767A>G | NP_001341824.1:p.Glu2589= | |
| NM_001354896.1:c.7821A>G | NP_001341825.1:p.Glu2607= | |
| NM_001354897.1:c.7797A>G | NP_001341826.1:p.Glu2599= | |
| NM_001354898.1:c.7692A>G | NP_001341827.1:p.Glu2564= | |
| NM_001354899.1:c.7683A>G | NP_001341828.1:p.Glu2561= | |
| NM_001354900.1:c.7644A>G | NP_001341829.1:p.Glu2548= | |
| NM_001354901.1:c.7590A>G | NP_001341830.1:p.Glu2530= | |
| NM_001354902.1:c.7494A>G | NP_001341831.1:p.Glu2498= | |
| NM_001354903.1:c.7464A>G | NP_001341832.1:p.Glu2488= | |
| NM_001354904.1:c.7389A>G | NP_001341833.1:p.Glu2463= | |
| NM_001354905.1:c.7287A>G | NP_001341834.1:p.Glu2429= | |
| NM_001354906.1:c.6918A>G | NP_001341835.1:p.Glu2306= | |
| NM_000038.6:c.7767A>G MANE Select | NP_000029.2:p.Glu2589= | |
| NM_001127510.3:c.7767A>G | NP_001120982.1:p.Glu2589= | |
| NM_001127511.3:c.7713A>G | NP_001120983.2:p.Glu2571= | |
| NM_001354895.2:c.7767A>G | NP_001341824.1:p.Glu2589= | |
| NM_001354896.2:c.7821A>G | NP_001341825.1:p.Glu2607= | |
| NM_001354897.2:c.7797A>G | NP_001341826.1:p.Glu2599= | |
| NM_001354898.2:c.7692A>G | NP_001341827.1:p.Glu2564= | |
| NM_001354899.2:c.7683A>G | NP_001341828.1:p.Glu2561= | |
| NM_001354900.2:c.7644A>G | NP_001341829.1:p.Glu2548= | |
| NM_001354901.2:c.7590A>G | NP_001341830.1:p.Glu2530= | |
| NM_001354902.2:c.7494A>G | NP_001341831.1:p.Glu2498= | |
| NM_001354903.2:c.7464A>G | NP_001341832.1:p.Glu2488= | |
| NM_001354904.2:c.7389A>G | NP_001341833.1:p.Glu2463= | |
| NM_001354905.2:c.7287A>G | NP_001341834.1:p.Glu2429= | |
| NM_001354906.2:c.6918A>G | NP_001341835.1:p.Glu2306= |