Linked Data
ClinVar Variation Id:
1954911
ClinVar RCV Id:
RCV002715157
dbSNP Id:
rs45443101
ExAC:
16:81922781 A / G
gnomAD v2:
16-81922781-A-G
gnomAD v3:
16-81889176-A-G
gnomAD v4:
16-81889176-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889176A>G , CM000678.2:g.81889176A>G | GRCh38 |
| NC_000016.9:g.81922781A>G , CM000678.1:g.81922781A>G | GRCh37 |
| NC_000016.8:g.80480282A>G | NCBI36 |
| NG_032019.2:g.155080A>G , LRG_376:g.155080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.770A>G | ENSP00000455533.2:p.His257Arg | |
| ENST00000697561.1:c.*199A>G | ENSP00000513337.1:n.*199A>G | |
| ENST00000697562.1:c.770A>G | ENSP00000513338.1:p.His257Arg | |
| ENST00000697563.1:c.*616A>G | ENSP00000513339.1:n.*616A>G | |
| ENST00000697564.1:c.653A>G | ENSP00000513340.1:p.His218Arg | |
| ENST00000697565.1:n.710A>G | ||
| ENST00000697581.1:c.*764A>G | ENSP00000513346.1:n.*764A>G | |
| ENST00000697582.1:c.770A>G | ENSP00000513347.1:p.His257Arg | |
| ENST00000697583.1:c.569A>G | ENSP00000513349.1:p.His190Arg | |
| ENST00000697584.1:c.569A>G | ENSP00000513350.1:p.His190Arg | |
| ENST00000697585.1:c.569A>G | ENSP00000513351.1:p.His190Arg | |
| ENST00000697586.1:c.569A>G | ENSP00000513352.1:p.His190Arg | |
| ENST00000697587.1:c.569A>G | ENSP00000513353.1:p.His190Arg | |
| ENST00000564138.6:c.770A>G MANE Select | ENSP00000482457.1:p.His257Arg | |
| ENST00000359376.7:c.770A>G | ENSP00000352336.4:p.His257Arg | |
| ENST00000563193.1:c.78A>G | ||
| ENST00000564138.5:c.770A>G | ENSP00000482457.1:p.His257Arg | |
| ENST00000567980.5:n.1014A>G | ||
| NM_002661.4:c.770A>G | NP_002652.2:p.His257Arg | |
| XM_011523108.1:c.884A>G | XP_011521410.1:p.His295Arg | |
| NM_002661.5:c.770A>G MANE Select | NP_002652.2:p.His257Arg |