Linked Data
dbSNP Id:
rs929480514
gnomAD v2:
10-30602896-C-T
gnomAD v3:
10-30313967-C-T
gnomAD v4:
10-30313967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313967C>T , CM000672.2:g.30313967C>T | GRCh38 |
| NC_000010.10:g.30602896C>T , CM000672.1:g.30602896C>T | GRCh37 |
| NC_000010.9:g.30642902C>T | NCBI36 |
| NG_028096.1:g.40372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1391G>A MANE Select | ENSP00000263063.3:p.Arg464Lys | |
| ENST00000263063.8:c.1391G>A | ENSP00000263063.3:p.Arg464Lys | |
| ENST00000488290.5:n.3146G>A | ||
| NM_018109.3:c.1391G>A | NP_060579.3:p.Arg464Lys | |
| NM_018109.4:c.1391G>A MANE Select | NP_060579.3:p.Arg464Lys |