Linked Data
ClinVar Variation Id:
17066
dbSNP Id:
rs2274567
ExAC:
1:207753621 A / G
gnomAD v2:
1-207753621-A-G
gnomAD v3:
1-207580276-A-G
gnomAD v4:
1-207580276-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207580276A>G , CM000663.2:g.207580276A>G | GRCh38 |
| NC_000001.10:g.207753621A>G , CM000663.1:g.207753621A>G | GRCh37 |
| NC_000001.9:g.205820244A>G | NCBI36 |
| NG_007481.1:g.89149A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367049.9:c.4973A>G MANE Select | ENSP00000356016.4:p.His1658Arg | |
| ENST00000367051.6:c.3623A>G | ENSP00000356018.1:p.His1208Arg | |
| ENST00000367052.6:c.3623A>G | ENSP00000356019.1:p.His1208Arg | |
| ENST00000367053.6:c.3623A>G | ENSP00000356020.1:p.His1208Arg | |
| ENST00000400960.7:c.3623A>G | ENSP00000383744.2:p.His1208Arg | |
| ENST00000367049.8:c.4973A>G | ENSP00000356016.4:p.His1658Arg | |
| ENST00000367051.5:c.3623A>G | ENSP00000356018.1:p.His1208Arg | |
| ENST00000367052.5:c.3623A>G | ENSP00000356019.1:p.His1208Arg | |
| ENST00000367053.5:c.3623A>G | ENSP00000356020.1:p.His1208Arg | |
| ENST00000400960.6:c.3623A>G | ENSP00000383744.2:p.His1208Arg | |
| ENST00000529814.1:c.1179+14353A>G | ||
| ENST00000534202.5:c.*738A>G | ENSP00000436139.2:n.*738A>G | |
| NM_000573.3:c.3623A>G | NP_000564.2:p.His1208Arg | |
| NM_000651.4:c.4973A>G | NP_000642.3:p.His1658Arg | |
| XM_006711166.2:c.4988A>G | XP_006711229.1:p.His1663Arg | |
| XM_011509205.1:c.4988A>G | XP_011507507.1:p.His1663Arg | |
| NM_000651.5:c.4973A>G | NP_000642.3:p.His1658Arg | |
| XM_024453287.1:c.3638A>G | XP_024309055.1:p.His1213Arg | |
| NM_000573.4:c.3623A>G | NP_000564.2:p.His1208Arg | |
| NM_000651.6:c.4973A>G MANE Select | NP_000642.3:p.His1658Arg |