Linked Data
ClinVar Variation Id:
1424342
ClinVar RCV Id:
RCV001921579
dbSNP Id:
rs1373129992
gnomAD v2:
10-71142299-G-A
gnomAD v4:
10-69382543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69382543G>A , CM000672.2:g.69382543G>A | GRCh38 |
| NC_000010.10:g.71142299G>A , CM000672.1:g.71142299G>A | GRCh37 |
| NC_000010.9:g.70812305G>A | NCBI36 |
| NG_012077.1:g.117544G>A , LRG_365:g.117544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1322G>A | ENSP00000515580.1:p.Arg441His | |
| ENST00000703945.1:c.1238G>A | ENSP00000515578.1:p.Arg413His | |
| ENST00000703946.1:c.1265+2448G>A | ENSP00000515579.1:n.1265+2448G>A | |
| ENST00000703947.1:c.932G>A | ENSP00000515581.1:p.Arg311His | |
| ENST00000703948.1:c.*939G>A | ENSP00000515582.1:n.*939G>A | |
| ENST00000703949.1:c.1322G>A | ENSP00000515583.1:p.Arg441His | |
| ENST00000703950.1:c.1322G>A | ENSP00000515584.1:p.Arg441His | |
| ENST00000703951.1:c.1265+2448G>A | ENSP00000515585.1:n.1265+2448G>A | |
| ENST00000703952.1:c.1265+2448G>A | ENSP00000515586.1:n.1265+2448G>A | |
| ENST00000703953.1:c.*585G>A | ENSP00000515587.1:n.*585G>A | |
| ENST00000703954.1:c.1202G>A | ENSP00000515588.1:p.Arg401His | |
| ENST00000703955.1:n.1872G>A | ||
| ENST00000298649.8:c.1319G>A | ENSP00000298649.3:p.Arg440His | |
| ENST00000359426.7:c.1322G>A MANE Select | ENSP00000352398.6:p.Arg441His | |
| ENST00000436817.6:c.1334G>A | ENSP00000415949.2:p.Arg445His | |
| ENST00000493591.6:c.*1210G>A | ENSP00000494917.1:n.*1210G>A | |
| ENST00000643399.2:c.1334G>A MANE Plus Clinical | ENSP00000494664.1:p.Arg445His | |
| ENST00000298649.7:c.1319G>A | ENSP00000298649.3:p.Arg440His | |
| ENST00000359426.6:c.1322G>A | ENSP00000352398.6:p.Arg441His | |
| ENST00000360289.6:c.1286G>A | ENSP00000353433.2:p.Arg429His | |
| ENST00000448642.6:c.1334G>A | ENSP00000402103.3:p.Arg445His | |
| ENST00000494253.1:n.1548G>A | ||
| NM_000188.2:c.1322G>A | NP_000179.2:p.Arg441His | |
| NM_033496.2:c.1319G>A | NP_277031.1:p.Arg440His | |
| NM_033497.2:c.1334G>A | NP_277032.1:p.Arg445His | |
| NM_033498.2:c.1334G>A | NP_277033.1:p.Arg445His | |
| NM_033500.2:c.1286G>A , LRG_365t1:c.1286G>A | NP_277035.2:p.Arg429His | |
| XM_005269735.2:c.1451G>A | XP_005269792.1:p.Arg484His | |
| XM_005269736.1:c.1334G>A | XP_005269793.1:p.Arg445His | |
| XM_005269737.1:c.1238G>A | XP_005269794.1:p.Arg413His | |
| XM_011539732.1:c.1286G>A | XP_011538034.1:p.Arg429His | |
| XM_011539733.1:c.1280G>A | XP_011538035.1:p.Arg427His | |
| XM_011539734.1:c.1277G>A | XP_011538036.1:p.Arg426His | |
| NM_001322364.1:c.1334G>A | NP_001309293.1:p.Arg445His | |
| NM_001322365.1:c.1427G>A | NP_001309294.1:p.Arg476His | |
| NM_001322366.1:c.1238G>A | NP_001309295.1:p.Arg413His | |
| NM_001322367.1:c.1226G>A | NP_001309296.1:p.Arg409His | |
| NM_001358263.1:c.1334G>A MANE Plus Clinical | NP_001345192.1:p.Arg445His | |
| XM_024447969.1:c.1334G>A | XP_024303737.1:p.Arg445His | |
| NM_000188.3:c.1322G>A MANE Select | NP_000179.2:p.Arg441His | |
| NM_001322364.2:c.1334G>A | NP_001309293.1:p.Arg445His | |
| NM_001322365.2:c.1427G>A | NP_001309294.1:p.Arg476His | |
| NM_033496.3:c.1319G>A | NP_277031.1:p.Arg440His | |
| NM_033497.3:c.1334G>A | NP_277032.1:p.Arg445His | |
| NM_033498.3:c.1334G>A | NP_277033.1:p.Arg445His |