Linked Data
ClinVar Variation Id:
231549
dbSNP Id:
rs375674083
ExAC:
5:112178762 A / G
gnomAD v2:
5-112178762-A-G
gnomAD v3:
5-112843065-A-G
gnomAD v4:
5-112843065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843065A>G , CM000667.2:g.112843065A>G | GRCh38 |
| NC_000005.9:g.112178762A>G , CM000667.1:g.112178762A>G | GRCh37 |
| NC_000005.8:g.112206661A>G | NCBI36 |
| NG_008481.4:g.155545A>G , LRG_130:g.155545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7525A>G | ENSP00000473355.2:p.Met2509Val | |
| ENST00000505350.2:c.*7477A>G | ENSP00000481752.1:n.*7477A>G | |
| ENST00000507379.6:c.7417A>G | ENSP00000423224.2:p.Met2473Val | |
| ENST00000509732.6:c.7471A>G | ENSP00000426541.2:p.Met2491Val | |
| ENST00000512211.7:c.7471A>G | ENSP00000423828.3:p.Met2491Val | |
| ENST00000257430.9:c.7471A>G MANE Select | ENSP00000257430.4:p.Met2491Val | |
| ENST00000257430.8:c.7471A>G | ENSP00000257430.4:p.Met2491Val | |
| ENST00000508376.6:c.7471A>G | ENSP00000427089.2:p.Met2491Val | |
| ENST00000520401.1:c.231-13584A>G | ||
| NM_000038.5:c.7471A>G | NP_000029.2:p.Met2491Val | |
| NM_001127510.2:c.7471A>G | NP_001120982.1:p.Met2491Val | |
| NM_001127511.2:c.7417A>G | NP_001120983.2:p.Met2473Val | |
| NM_001354895.1:c.7471A>G | NP_001341824.1:p.Met2491Val | |
| NM_001354896.1:c.7525A>G | NP_001341825.1:p.Met2509Val | |
| NM_001354897.1:c.7501A>G | NP_001341826.1:p.Met2501Val | |
| NM_001354898.1:c.7396A>G | NP_001341827.1:p.Met2466Val | |
| NM_001354899.1:c.7387A>G | NP_001341828.1:p.Met2463Val | |
| NM_001354900.1:c.7348A>G | NP_001341829.1:p.Met2450Val | |
| NM_001354901.1:c.7294A>G | NP_001341830.1:p.Met2432Val | |
| NM_001354902.1:c.7198A>G | NP_001341831.1:p.Met2400Val | |
| NM_001354903.1:c.7168A>G | NP_001341832.1:p.Met2390Val | |
| NM_001354904.1:c.7093A>G | NP_001341833.1:p.Met2365Val | |
| NM_001354905.1:c.6991A>G | NP_001341834.1:p.Met2331Val | |
| NM_001354906.1:c.6622A>G | NP_001341835.1:p.Met2208Val | |
| NM_000038.6:c.7471A>G MANE Select | NP_000029.2:p.Met2491Val | |
| NM_001127510.3:c.7471A>G | NP_001120982.1:p.Met2491Val | |
| NM_001127511.3:c.7417A>G | NP_001120983.2:p.Met2473Val | |
| NM_001354895.2:c.7471A>G | NP_001341824.1:p.Met2491Val | |
| NM_001354896.2:c.7525A>G | NP_001341825.1:p.Met2509Val | |
| NM_001354897.2:c.7501A>G | NP_001341826.1:p.Met2501Val | |
| NM_001354898.2:c.7396A>G | NP_001341827.1:p.Met2466Val | |
| NM_001354899.2:c.7387A>G | NP_001341828.1:p.Met2463Val | |
| NM_001354900.2:c.7348A>G | NP_001341829.1:p.Met2450Val | |
| NM_001354901.2:c.7294A>G | NP_001341830.1:p.Met2432Val | |
| NM_001354902.2:c.7198A>G | NP_001341831.1:p.Met2400Val | |
| NM_001354903.2:c.7168A>G | NP_001341832.1:p.Met2390Val | |
| NM_001354904.2:c.7093A>G | NP_001341833.1:p.Met2365Val | |
| NM_001354905.2:c.6991A>G | NP_001341834.1:p.Met2331Val | |
| NM_001354906.2:c.6622A>G | NP_001341835.1:p.Met2208Val |