Linked Data
ClinVar Variation Id:
2067072
ClinVar RCV Id:
RCV002943767
dbSNP Id:
rs1027436811
gnomAD v2:
17-36894691-C-T
gnomAD v4:
17-38738438-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38738438C>T , CM000679.2:g.38738438C>T | GRCh38 |
| NC_000017.10:g.36894691C>T , CM000679.1:g.36894691C>T | GRCh37 |
| NC_000017.9:g.34148217C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620225.5:c.491G>A MANE Select | ENSP00000482815.1:p.Arg164His | |
| ENST00000611883.4:c.491G>A | ENSP00000478970.1:p.Arg164His | |
| ENST00000616129.4:c.495G>A | ENSP00000484201.1:p.Ala165= | |
| ENST00000616199.4:c.491G>A | ENSP00000482063.1:p.Arg164His | |
| ENST00000618506.1:c.333G>A | ENSP00000484721.1:p.Ala111= | |
| ENST00000618941.4:c.495G>A | ENSP00000481656.1:p.Ala165= | |
| ENST00000620225.4:c.491G>A | ENSP00000482815.1:p.Arg164His | |
| NM_007144.2:c.491G>A | NP_009075.1:p.Arg164His | |
| XM_005257640.1:c.491G>A | XP_005257697.1:p.Arg164His | |
| XM_005257641.3:c.491G>A | XP_005257698.1:p.Arg164His | |
| XM_005257642.2:c.491G>A | XP_005257699.1:p.Arg164His | |
| XM_005257640.2:c.491G>A | XP_005257697.1:p.Arg164His | |
| XM_005257641.5:c.491G>A | XP_005257698.1:p.Arg164His | |
| XM_005257642.3:c.491G>A | XP_005257699.1:p.Arg164His | |
| XM_017025016.1:c.491G>A | XP_016880505.1:p.Arg164His | |
| NM_007144.3:c.491G>A MANE Select | NP_009075.1:p.Arg164His | |
| NM_001369614.1:c.491G>A | NP_001356543.1:p.Arg164His | |
| NM_001369615.1:c.491G>A | NP_001356544.1:p.Arg164His |