Linked Data
dbSNP Id:
rs567426021
ExAC:
11:68174052 A / G
gnomAD v2:
11-68174052-A-G
gnomAD v3:
11-68406584-A-G
gnomAD v4:
11-68406584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68406584A>G , CM000673.2:g.68406584A>G | GRCh38 |
| NC_000011.9:g.68174052A>G , CM000673.1:g.68174052A>G | GRCh37 |
| NC_000011.8:g.67930628A>G | NCBI36 |
| NG_015835.1:g.98945A>G | |
| NG_015835.2:g.98945A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1862A>G MANE Select | ENSP00000294304.6:p.His621Arg | |
| ENST00000294304.11:c.1862A>G | ENSP00000294304.6:p.His621Arg | |
| ENST00000529993.5:c.*468A>G | ENSP00000436652.1:n.*468A>G | |
| NM_001291902.1:c.119A>G | NP_001278831.1:p.His40Arg | |
| NM_002335.3:c.1862A>G | NP_002326.2:p.His621Arg | |
| XM_005273994.2:c.1862A>G | XP_005274051.1:p.His621Arg | |
| XM_011545029.1:c.1889A>G | XP_011543331.1:p.His630Arg | |
| XM_011545030.1:c.1889A>G | XP_011543332.1:p.His630Arg | |
| XM_011545031.1:c.1889A>G | XP_011543333.1:p.His630Arg | |
| XR_949925.1:n.1904A>G | ||
| XR_949926.1:n.1904A>G | ||
| XM_017017735.1:c.119A>G | XP_016873224.1:p.His40Arg | |
| XR_001747874.1:n.1904A>G | ||
| XR_949925.2:n.1904A>G | ||
| XR_949926.2:n.1904A>G | ||
| NM_002335.4:c.1862A>G MANE Select | NP_002326.2:p.His621Arg | |
| NM_001291902.2:c.119A>G | NP_001278831.1:p.His40Arg |