Linked Data
ClinVar Variation Id:
2737259
ClinVar RCV Id:
RCV003560258
dbSNP Id:
rs201511329
ExAC:
6:30891264 C / A
gnomAD v2:
6-30891264-C-A
gnomAD v3:
6-30923487-C-A
gnomAD v4:
6-30923487-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923487C>A , CM000668.2:g.30923487C>A | GRCh38 |
| NC_000006.11:g.30891264C>A , CM000668.1:g.30891264C>A | GRCh37 |
| NC_000006.10:g.30999243C>A | NCBI36 |
| NG_034224.1:g.14280C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2448C>A | ENSP00000441000.2:p.Asn816Lys | |
| ENST00000672801.1:c.2442C>A | ENSP00000500615.1:p.Asn814Lys | |
| ENST00000676266.1:c.2448C>A MANE Select | ENSP00000502585.1:p.Asn816Lys | |
| ENST00000321897.9:c.2448C>A | ENSP00000316092.5:p.Asn816Lys | |
| ENST00000469358.5:n.2436C>A | ||
| ENST00000473916.1:n.159C>A | ||
| ENST00000476162.5:n.1235C>A | ||
| ENST00000477052.1:n.534C>A | ||
| ENST00000477288.5:n.5061C>A | ||
| ENST00000541562.5:c.2538C>A | ENSP00000441000.1:p.Asn846Lys | |
| ENST00000542001.5:c.2442C>A | ENSP00000438200.2:p.Asn814Lys | |
| ENST00000625423.2:c.2028C>A | ENSP00000485818.1:p.Asn676Lys | |
| NM_001167733.2:c.2028C>A | NP_001161205.1:p.Asn676Lys | |
| NM_001167734.1:c.2538C>A | NP_001161206.1:p.Asn846Lys | |
| NM_020442.5:c.2448C>A | NP_065175.4:p.Asn816Lys | |
| NM_001167733.3:c.2028C>A | NP_001161205.1:p.Asn676Lys | |
| NM_001167734.2:c.2538C>A | NP_001161206.1:p.Asn846Lys | |
| NM_020442.6:c.2448C>A MANE Select | NP_065175.4:p.Asn816Lys |