Linked Data
dbSNP Id:
rs769755341
ExAC:
10:30602740 C / T
gnomAD v2:
10-30602740-C-T
gnomAD v3:
10-30313811-C-T
gnomAD v4:
10-30313811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313811C>T , CM000672.2:g.30313811C>T | GRCh38 |
| NC_000010.10:g.30602740C>T , CM000672.1:g.30602740C>T | GRCh37 |
| NC_000010.9:g.30642746C>T | NCBI36 |
| NG_028096.1:g.40528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1547G>A MANE Select | ENSP00000263063.3:p.Arg516Gln | |
| ENST00000263063.8:c.1547G>A | ENSP00000263063.3:p.Arg516Gln | |
| ENST00000488290.5:n.3302G>A | ||
| NM_018109.3:c.1547G>A | NP_060579.3:p.Arg516Gln | |
| NM_018109.4:c.1547G>A MANE Select | NP_060579.3:p.Arg516Gln |