Linked Data
ClinVar Variation Id:
100537
ClinVar RCV Id:
RCV000128509
dbSNP Id:
rs199469642
gnomAD v2:
5-136973024-A-G
gnomAD v3:
5-137637335-A-G
gnomAD v4:
5-137637335-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137637335A>G , CM000667.2:g.137637335A>G | GRCh38 |
| NC_000005.9:g.136973024A>G , CM000667.1:g.136973024A>G | GRCh37 |
| NC_000005.8:g.137000923A>G | NCBI36 |
| NG_032569.1:g.103756T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1280T>C MANE Select | ENSP00000312397.4:p.Met427Thr | |
| ENST00000309755.8:c.1280T>C | ENSP00000312397.4:p.Met427Thr | |
| ENST00000502381.1:n.806+1618T>C | ||
| ENST00000504208.5:c.*335-8898T>C | ENSP00000423585.1:n.*335-8898T>C | |
| ENST00000505853.1:c.1160T>C | ENSP00000426173.1:p.Met387Thr | |
| ENST00000506491.5:c.1034T>C | ENSP00000424828.1:p.Met345Thr | |
| ENST00000506873.5:n.844+1618T>C | ||
| ENST00000508657.5:c.1184T>C | ENSP00000422099.1:p.Met395Thr | |
| NM_001257194.1:c.1184T>C | NP_001244123.1:p.Met395Thr | |
| NM_001257195.1:c.1034T>C | NP_001244124.1:p.Met345Thr | |
| NM_017415.2:c.1280T>C | NP_059111.2:p.Met427Thr | |
| NM_017415.3:c.1280T>C MANE Select | NP_059111.2:p.Met427Thr | |
| NM_001257195.2:c.1034T>C | NP_001244124.1:p.Met345Thr |