Linked Data
ClinVar Variation Id:
30519
dbSNP Id:
rs199469638
gnomAD v2:
5-136997639-G-A
gnomAD v3:
5-137661950-G-A
gnomAD v4:
5-137661950-G-A
COSMIC:
COSM1433286
PubMed:
PMID:22266938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137661950G>A , CM000667.2:g.137661950G>A | GRCh38 |
| NC_000005.9:g.136997639G>A , CM000667.1:g.136997639G>A | GRCh37 |
| NC_000005.8:g.137025538G>A | NCBI36 |
| NG_032569.1:g.79141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.718C>T MANE Select | ENSP00000312397.4:p.Arg240Ter | |
| ENST00000309755.8:c.718C>T | ENSP00000312397.4:p.Arg240Ter | |
| ENST00000502381.1:n.305C>T | ||
| ENST00000504208.5:c.*149C>T | ENSP00000423585.1:n.*149C>T | |
| ENST00000504496.5:n.593C>T | ||
| ENST00000505853.1:c.598C>T | ENSP00000426173.1:p.Arg200Ter | |
| ENST00000506491.5:c.472C>T | ENSP00000424828.1:p.Arg158Ter | |
| ENST00000506873.5:n.343C>T | ||
| ENST00000508657.5:c.622C>T | ENSP00000422099.1:p.Arg208Ter | |
| NM_001257194.1:c.622C>T | NP_001244123.1:p.Arg208Ter | |
| NM_001257195.1:c.472C>T | NP_001244124.1:p.Arg158Ter | |
| NM_017415.2:c.718C>T | NP_059111.2:p.Arg240Ter | |
| NM_017415.3:c.718C>T MANE Select | NP_059111.2:p.Arg240Ter | |
| NM_001257195.2:c.472C>T | NP_001244124.1:p.Arg158Ter |