Linked Data
dbSNP Id:
rs371739329
ExAC:
12:52910570 G / C
gnomAD v2:
12-52910570-G-C
gnomAD v3:
12-52516786-G-C
gnomAD v4:
12-52516786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516786G>C , CM000674.2:g.52516786G>C | GRCh38 |
| NC_000012.11:g.52910570G>C , CM000674.1:g.52910570G>C | GRCh37 |
| NC_000012.10:g.51196837G>C | NCBI36 |
| NG_008297.1:g.8674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1290C>G MANE Select | ENSP00000252242.4:p.Asn430Lys | |
| ENST00000252242.8:c.1290C>G | ENSP00000252242.4:p.Asn430Lys | |
| ENST00000547890.5:n.668C>G | ||
| ENST00000548409.5:c.412C>G | ||
| ENST00000549511.5:n.497C>G | ||
| ENST00000552629.5:n.1388C>G | ||
| NM_000424.3:c.1290C>G | NP_000415.2:p.Asn430Lys | |
| NM_000424.4:c.1290C>G MANE Select | NP_000415.2:p.Asn430Lys |