Linked Data
ClinVar Variation Id:
231898
dbSNP Id:
rs201797422
ExAC:
5:112176204 T / C
gnomAD v2:
5-112176204-T-C
gnomAD v3:
5-112840507-T-C
gnomAD v4:
5-112840507-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840507T>C , CM000667.2:g.112840507T>C | GRCh38 |
| NC_000005.9:g.112176204T>C , CM000667.1:g.112176204T>C | GRCh37 |
| NC_000005.8:g.112204103T>C | NCBI36 |
| NG_008481.4:g.152987T>C , LRG_130:g.152987T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4967T>C | ENSP00000473355.2:p.Met1656Thr | |
| ENST00000505350.2:c.*4919T>C | ENSP00000481752.1:n.*4919T>C | |
| ENST00000507379.6:c.4859T>C | ENSP00000423224.2:p.Met1620Thr | |
| ENST00000509732.6:c.4913T>C | ENSP00000426541.2:p.Met1638Thr | |
| ENST00000512211.7:c.4913T>C | ENSP00000423828.3:p.Met1638Thr | |
| ENST00000257430.9:c.4913T>C MANE Select | ENSP00000257430.4:p.Met1638Thr | |
| ENST00000257430.8:c.4913T>C | ENSP00000257430.4:p.Met1638Thr | |
| ENST00000508376.6:c.4913T>C | ENSP00000427089.2:p.Met1638Thr | |
| ENST00000508624.5:c.*4235T>C | ENSP00000424265.1:n.*4235T>C | |
| ENST00000520401.1:c.230+11535T>C | ||
| NM_000038.5:c.4913T>C | NP_000029.2:p.Met1638Thr | |
| NM_001127510.2:c.4913T>C | NP_001120982.1:p.Met1638Thr | |
| NM_001127511.2:c.4859T>C | NP_001120983.2:p.Met1620Thr | |
| NM_001354895.1:c.4913T>C | NP_001341824.1:p.Met1638Thr | |
| NM_001354896.1:c.4967T>C | NP_001341825.1:p.Met1656Thr | |
| NM_001354897.1:c.4943T>C | NP_001341826.1:p.Met1648Thr | |
| NM_001354898.1:c.4838T>C | NP_001341827.1:p.Met1613Thr | |
| NM_001354899.1:c.4829T>C | NP_001341828.1:p.Met1610Thr | |
| NM_001354900.1:c.4790T>C | NP_001341829.1:p.Met1597Thr | |
| NM_001354901.1:c.4736T>C | NP_001341830.1:p.Met1579Thr | |
| NM_001354902.1:c.4640T>C | NP_001341831.1:p.Met1547Thr | |
| NM_001354903.1:c.4610T>C | NP_001341832.1:p.Met1537Thr | |
| NM_001354904.1:c.4535T>C | NP_001341833.1:p.Met1512Thr | |
| NM_001354905.1:c.4433T>C | NP_001341834.1:p.Met1478Thr | |
| NM_001354906.1:c.4064T>C | NP_001341835.1:p.Met1355Thr | |
| NM_000038.6:c.4913T>C MANE Select | NP_000029.2:p.Met1638Thr | |
| NM_001127510.3:c.4913T>C | NP_001120982.1:p.Met1638Thr | |
| NM_001127511.3:c.4859T>C | NP_001120983.2:p.Met1620Thr | |
| NM_001354895.2:c.4913T>C | NP_001341824.1:p.Met1638Thr | |
| NM_001354896.2:c.4967T>C | NP_001341825.1:p.Met1656Thr | |
| NM_001354897.2:c.4943T>C | NP_001341826.1:p.Met1648Thr | |
| NM_001354898.2:c.4838T>C | NP_001341827.1:p.Met1613Thr | |
| NM_001354899.2:c.4829T>C | NP_001341828.1:p.Met1610Thr | |
| NM_001354900.2:c.4790T>C | NP_001341829.1:p.Met1597Thr | |
| NM_001354901.2:c.4736T>C | NP_001341830.1:p.Met1579Thr | |
| NM_001354902.2:c.4640T>C | NP_001341831.1:p.Met1547Thr | |
| NM_001354903.2:c.4610T>C | NP_001341832.1:p.Met1537Thr | |
| NM_001354904.2:c.4535T>C | NP_001341833.1:p.Met1512Thr | |
| NM_001354905.2:c.4433T>C | NP_001341834.1:p.Met1478Thr | |
| NM_001354906.2:c.4064T>C | NP_001341835.1:p.Met1355Thr |