Linked Data
ClinVar Variation Id:
133510
ClinVar RCV Id:
RCV000120015
RCV000122777
RCV000148358
RCV000589855
RCV000131786
RCV003764834
RCV003915187
dbSNP Id:
rs141519952
ExAC:
5:112175528 A / G
gnomAD v2:
5-112175528-A-G
gnomAD v3:
5-112839831-A-G
gnomAD v4:
5-112839831-A-G
COSMIC:
COSM4169481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839831A>G , CM000667.2:g.112839831A>G | GRCh38 |
| NC_000005.9:g.112175528A>G , CM000667.1:g.112175528A>G | GRCh37 |
| NC_000005.8:g.112203427A>G | NCBI36 |
| NG_008481.4:g.152311A>G , LRG_130:g.152311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3902A>G | ENSP00000484935.2:n.3902A>G | |
| ENST00000504915.3:c.4291A>G | ENSP00000473355.2:p.Met1431Val | |
| ENST00000505350.2:c.*4243A>G | ENSP00000481752.1:n.*4243A>G | |
| ENST00000507379.6:c.4183A>G | ENSP00000423224.2:p.Met1395Val | |
| ENST00000509732.6:c.4237A>G | ENSP00000426541.2:p.Met1413Val | |
| ENST00000512211.7:c.4237A>G | ENSP00000423828.3:p.Met1413Val | |
| ENST00000257430.9:c.4237A>G MANE Select | ENSP00000257430.4:p.Met1413Val | |
| ENST00000257430.8:c.4237A>G | ENSP00000257430.4:p.Met1413Val | |
| ENST00000502371.2:c.2590A>G | ||
| ENST00000508376.6:c.4237A>G | ENSP00000427089.2:p.Met1413Val | |
| ENST00000508624.5:c.*3559A>G | ENSP00000424265.1:n.*3559A>G | |
| ENST00000520401.1:c.230+10859A>G | ||
| NM_000038.5:c.4237A>G | NP_000029.2:p.Met1413Val | |
| NM_001127510.2:c.4237A>G | NP_001120982.1:p.Met1413Val | |
| NM_001127511.2:c.4183A>G | NP_001120983.2:p.Met1395Val | |
| NM_001354895.1:c.4237A>G | NP_001341824.1:p.Met1413Val | |
| NM_001354896.1:c.4291A>G | NP_001341825.1:p.Met1431Val | |
| NM_001354897.1:c.4267A>G | NP_001341826.1:p.Met1423Val | |
| NM_001354898.1:c.4162A>G | NP_001341827.1:p.Met1388Val | |
| NM_001354899.1:c.4153A>G | NP_001341828.1:p.Met1385Val | |
| NM_001354900.1:c.4114A>G | NP_001341829.1:p.Met1372Val | |
| NM_001354901.1:c.4060A>G | NP_001341830.1:p.Met1354Val | |
| NM_001354902.1:c.3964A>G | NP_001341831.1:p.Met1322Val | |
| NM_001354903.1:c.3934A>G | NP_001341832.1:p.Met1312Val | |
| NM_001354904.1:c.3859A>G | NP_001341833.1:p.Met1287Val | |
| NM_001354905.1:c.3757A>G | NP_001341834.1:p.Met1253Val | |
| NM_001354906.1:c.3388A>G | NP_001341835.1:p.Met1130Val | |
| NM_000038.6:c.4237A>G MANE Select | NP_000029.2:p.Met1413Val | |
| NM_001127510.3:c.4237A>G | NP_001120982.1:p.Met1413Val | |
| NM_001127511.3:c.4183A>G | NP_001120983.2:p.Met1395Val | |
| NM_001354895.2:c.4237A>G | NP_001341824.1:p.Met1413Val | |
| NM_001354896.2:c.4291A>G | NP_001341825.1:p.Met1431Val | |
| NM_001354897.2:c.4267A>G | NP_001341826.1:p.Met1423Val | |
| NM_001354898.2:c.4162A>G | NP_001341827.1:p.Met1388Val | |
| NM_001354899.2:c.4153A>G | NP_001341828.1:p.Met1385Val | |
| NM_001354900.2:c.4114A>G | NP_001341829.1:p.Met1372Val | |
| NM_001354901.2:c.4060A>G | NP_001341830.1:p.Met1354Val | |
| NM_001354902.2:c.3964A>G | NP_001341831.1:p.Met1322Val | |
| NM_001354903.2:c.3934A>G | NP_001341832.1:p.Met1312Val | |
| NM_001354904.2:c.3859A>G | NP_001341833.1:p.Met1287Val | |
| NM_001354905.2:c.3757A>G | NP_001341834.1:p.Met1253Val | |
| NM_001354906.2:c.3388A>G | NP_001341835.1:p.Met1130Val |