Linked Data
dbSNP Id:
rs146265982
ExAC:
19:15651449 G / A
gnomAD v2:
19-15651449-G-A
gnomAD v3:
19-15540638-G-A
gnomAD v4:
19-15540638-G-A
COSMIC:
COSM3403864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540638G>A , CM000681.2:g.15540638G>A | GRCh38 |
| NC_000019.9:g.15651449G>A , CM000681.1:g.15651449G>A | GRCh37 |
| NC_000019.8:g.15512449G>A | NCBI36 |
| NG_007987.1:g.37114G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.860G>A MANE Select | ENSP00000269703.1:p.Arg287His | |
| ENST00000269703.7:c.860G>A | ENSP00000269703.1:p.Arg287His | |
| ENST00000601005.2:c.860G>A | ENSP00000469866.1:p.Arg287His | |
| NM_173483.3:c.860G>A | NP_775754.2:p.Arg287His | |
| XM_011527692.1:c.860G>A | XP_011525994.1:p.Arg287His | |
| XM_011527693.1:c.860G>A | XP_011525995.1:p.Arg287His | |
| XM_011527692.2:c.860G>A | XP_011525994.1:p.Arg287His | |
| XM_011527693.2:c.860G>A | XP_011525995.1:p.Arg287His | |
| NM_173483.4:c.860G>A MANE Select | NP_775754.2:p.Arg287His |