Linked Data
dbSNP Id:
rs772159414
ExAC:
10:96541712 C / A
gnomAD v2:
10-96541712-C-A
gnomAD v4:
10-94781955-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781955C>A , CM000672.2:g.94781955C>A | GRCh38 |
| NC_000010.10:g.96541712C>A , CM000672.1:g.96541712C>A | GRCh37 |
| NC_000010.9:g.96531702C>A | NCBI36 |
| NG_008384.2:g.24250C>A | |
| NG_008384.3:g.24275C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.777C>A MANE Select | ENSP00000360372.3:p.Asn259Lys | |
| ENST00000645461.1:n.1830C>A | ||
| ENST00000371321.7:c.777C>A | ENSP00000360372.3:p.Asn259Lys | |
| ENST00000464755.1:c.1540C>A | ENSP00000483243.1:n.1540C>A | |
| NM_000769.2:c.777C>A | NP_000760.1:p.Asn259Lys | |
| NM_000769.4:c.777C>A MANE Select | NP_000760.1:p.Asn259Lys |