Linked Data
ClinVar Variation Id:
188210
dbSNP Id:
rs776878597
ExAC:
5:112173825 G / A
gnomAD v2:
5-112173825-G-A
gnomAD v3:
5-112838128-G-A
gnomAD v4:
5-112838128-G-A
PubMed:
PMID:22395475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838128G>A , CM000667.2:g.112838128G>A | GRCh38 |
| NC_000005.9:g.112173825G>A , CM000667.1:g.112173825G>A | GRCh37 |
| NC_000005.8:g.112201724G>A | NCBI36 |
| NG_008481.4:g.150608G>A , LRG_130:g.150608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2199G>A | ENSP00000484935.2:n.2199G>A | |
| ENST00000504915.3:c.2588G>A | ENSP00000473355.2:p.Arg863His | |
| ENST00000505350.2:c.*2540G>A | ENSP00000481752.1:n.*2540G>A | |
| ENST00000507379.6:c.2480G>A | ENSP00000423224.2:p.Arg827His | |
| ENST00000509732.6:c.2534G>A | ENSP00000426541.2:p.Arg845His | |
| ENST00000512211.7:c.2534G>A | ENSP00000423828.3:p.Arg845His | |
| ENST00000257430.9:c.2534G>A MANE Select | ENSP00000257430.4:p.Arg845His | |
| ENST00000257430.8:c.2534G>A | ENSP00000257430.4:p.Arg845His | |
| ENST00000502371.2:c.887G>A | ||
| ENST00000507379.5:c.2480G>A | ENSP00000423224.1:p.Arg827His | |
| ENST00000508376.6:c.2534G>A | ENSP00000427089.2:p.Arg845His | |
| ENST00000508624.5:c.*1856G>A | ENSP00000424265.1:n.*1856G>A | |
| ENST00000512211.6:c.2534G>A | ENSP00000423828.2:p.Arg845His | |
| ENST00000520401.1:c.230+9156G>A | ||
| NM_000038.5:c.2534G>A | NP_000029.2:p.Arg845His | |
| NM_001127510.2:c.2534G>A | NP_001120982.1:p.Arg845His | |
| NM_001127511.2:c.2480G>A | NP_001120983.2:p.Arg827His | |
| NM_001354895.1:c.2534G>A | NP_001341824.1:p.Arg845His | |
| NM_001354896.1:c.2588G>A | NP_001341825.1:p.Arg863His | |
| NM_001354897.1:c.2564G>A | NP_001341826.1:p.Arg855His | |
| NM_001354898.1:c.2459G>A | NP_001341827.1:p.Arg820His | |
| NM_001354899.1:c.2450G>A | NP_001341828.1:p.Arg817His | |
| NM_001354900.1:c.2411G>A | NP_001341829.1:p.Arg804His | |
| NM_001354901.1:c.2357G>A | NP_001341830.1:p.Arg786His | |
| NM_001354902.1:c.2261G>A | NP_001341831.1:p.Arg754His | |
| NM_001354903.1:c.2231G>A | NP_001341832.1:p.Arg744His | |
| NM_001354904.1:c.2156G>A | NP_001341833.1:p.Arg719His | |
| NM_001354905.1:c.2054G>A | NP_001341834.1:p.Arg685His | |
| NM_001354906.1:c.1685G>A | NP_001341835.1:p.Arg562His | |
| NM_000038.6:c.2534G>A MANE Select | NP_000029.2:p.Arg845His | |
| NM_001127510.3:c.2534G>A | NP_001120982.1:p.Arg845His | |
| NM_001127511.3:c.2480G>A | NP_001120983.2:p.Arg827His | |
| NM_001354895.2:c.2534G>A | NP_001341824.1:p.Arg845His | |
| NM_001354896.2:c.2588G>A | NP_001341825.1:p.Arg863His | |
| NM_001354897.2:c.2564G>A | NP_001341826.1:p.Arg855His | |
| NM_001354898.2:c.2459G>A | NP_001341827.1:p.Arg820His | |
| NM_001354899.2:c.2450G>A | NP_001341828.1:p.Arg817His | |
| NM_001354900.2:c.2411G>A | NP_001341829.1:p.Arg804His | |
| NM_001354901.2:c.2357G>A | NP_001341830.1:p.Arg786His | |
| NM_001354902.2:c.2261G>A | NP_001341831.1:p.Arg754His | |
| NM_001354903.2:c.2231G>A | NP_001341832.1:p.Arg744His | |
| NM_001354904.2:c.2156G>A | NP_001341833.1:p.Arg719His | |
| NM_001354905.2:c.2054G>A | NP_001341834.1:p.Arg685His | |
| NM_001354906.2:c.1685G>A | NP_001341835.1:p.Arg562His |