Linked Data
ClinVar Variation Id:
2394088
ClinVar RCV Id:
RCV002699720
dbSNP Id:
rs370212337
ExAC:
5:136964006 T / G
gnomAD v2:
5-136964006-T-G
gnomAD v3:
5-137628317-T-G
gnomAD v4:
5-137628317-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137628317T>G , CM000667.2:g.137628317T>G | GRCh38 |
| NC_000005.9:g.136964006T>G , CM000667.1:g.136964006T>G | GRCh37 |
| NC_000005.8:g.136991905T>G | NCBI36 |
| NG_032569.1:g.112774A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1571A>C MANE Select | ENSP00000312397.4:p.Asn524Thr | |
| ENST00000309755.8:c.1571A>C | ENSP00000312397.4:p.Asn524Thr | |
| ENST00000447439.6:n.1627A>C | ||
| ENST00000504208.5:c.*455A>C | ENSP00000423585.1:n.*455A>C | |
| ENST00000506491.5:c.1325A>C | ENSP00000424828.1:p.Asn442Thr | |
| ENST00000506873.5:n.1094A>C | ||
| ENST00000508657.5:c.1475A>C | ENSP00000422099.1:p.Asn492Thr | |
| ENST00000509694.1:n.364A>C | ||
| NM_001257194.1:c.1475A>C | NP_001244123.1:p.Asn492Thr | |
| NM_001257195.1:c.1325A>C | NP_001244124.1:p.Asn442Thr | |
| NM_017415.2:c.1571A>C | NP_059111.2:p.Asn524Thr | |
| NM_017415.3:c.1571A>C MANE Select | NP_059111.2:p.Asn524Thr | |
| NM_001257195.2:c.1325A>C | NP_001244124.1:p.Asn442Thr |