Linked Data
dbSNP Id:
rs771445149
ExAC:
13:28498612 G / A
gnomAD v2:
13-28498612-G-A
gnomAD v3:
13-27924475-G-A
gnomAD v4:
13-27924475-G-A
COSMIC:
COSM2070089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924475G>A , CM000675.2:g.27924475G>A | GRCh38 |
| NC_000013.10:g.28498612G>A , CM000675.1:g.28498612G>A | GRCh37 |
| NC_000013.9:g.27396612G>A | NCBI36 |
| NG_008183.1:g.9445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.626G>A MANE Select | ENSP00000370421.4:p.Arg209His | |
| ENST00000381033.4:c.626G>A | ENSP00000370421.4:p.Arg209His | |
| NM_000209.3:c.626G>A | NP_000200.1:p.Arg209His | |
| NM_000209.4:c.626G>A MANE Select | NP_000200.1:p.Arg209His |