Linked Data
dbSNP Id:
rs765914203
ExAC:
17:7919139 G / A
gnomAD v2:
17-7919139-G-A
gnomAD v4:
17-8015821-G-A
COSMIC:
COSM5853777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015821G>A , CM000679.2:g.8015821G>A | GRCh38 |
| NC_000017.10:g.7919139G>A , CM000679.1:g.7919139G>A | GRCh37 |
| NC_000017.9:g.7859864G>A | NCBI36 |
| NG_009092.1:g.18152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3023G>A MANE Select | ENSP00000254854.4:p.Arg1008His | |
| ENST00000254854.4:c.3023G>A | ENSP00000254854.4:p.Arg1008His | |
| NM_000180.3:c.3023G>A | NP_000171.1:p.Arg1008His | |
| XM_011523816.1:c.3023G>A | XP_011522118.1:p.Arg1008His | |
| NM_000180.4:c.3023G>A MANE Select | NP_000171.1:p.Arg1008His |