Linked Data
ClinVar Variation Id:
1371385
dbSNP Id:
rs770908923
ExAC:
11:47436841 G / A
gnomAD v2:
11-47436841-G-A
gnomAD v3:
11-47415290-G-A
gnomAD v4:
11-47415290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47415290G>A , CM000673.2:g.47415290G>A | GRCh38 |
| NC_000011.9:g.47436841G>A , CM000673.1:g.47436841G>A | GRCh37 |
| NC_000011.8:g.47393417G>A | NCBI36 |
| NG_017073.1:g.11796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362021.9:c.1043G>A MANE Select | ENSP00000354689.4:p.Arg348His | |
| ENST00000354884.8:c.1022G>A | ENSP00000346956.4:p.Arg341His | |
| ENST00000362021.8:c.1043G>A | ENSP00000354689.4:p.Arg348His | |
| ENST00000524886.1:n.301G>A | ||
| ENST00000524928.1:c.*1373G>A | ENSP00000437186.1:n.*1373G>A | |
| ENST00000527829.1:n.403G>A | ||
| ENST00000533076.5:c.*40G>A | ENSP00000434290.1:n.*40G>A | |
| NM_001128225.2:c.1043G>A | NP_001121697.1:p.Arg348His | |
| NM_152264.4:c.1022G>A | NP_689477.2:p.Arg341His | |
| XM_006718381.2:c.1067G>A | XP_006718444.1:p.Arg356His | |
| XM_006718383.2:c.959G>A | XP_006718446.1:p.Arg320His | |
| XM_006718384.2:c.*40G>A | XP_006718447.1:n.*40G>A | |
| XM_006718385.2:c.*40G>A | XP_006718448.1:n.*40G>A | |
| XM_011520466.1:c.1088G>A | XP_011518768.1:p.Arg363His | |
| XM_011520467.1:c.1043G>A | XP_011518769.1:p.Arg348His | |
| XM_011520468.1:c.1043G>A | XP_011518770.1:p.Arg348His | |
| XM_011520469.1:c.980G>A | XP_011518771.1:p.Arg327His | |
| XM_011520470.1:c.935G>A | XP_011518772.1:p.Arg312His | |
| XR_242832.1:n.1428G>A | ||
| XR_428862.2:n.1103G>A | ||
| XR_428863.2:n.1099G>A | ||
| XR_930928.1:n.1124G>A | ||
| NM_001330245.1:c.*40G>A | NP_001317174.1:n.*40G>A | |
| NR_134854.1:n.1284G>A | ||
| XM_006718381.3:c.1067G>A | XP_006718444.1:p.Arg356His | |
| XM_006718383.3:c.959G>A | XP_006718446.1:p.Arg320His | |
| XM_011520468.3:c.1043G>A | XP_011518770.1:p.Arg348His | |
| XM_011520470.2:c.935G>A | XP_011518772.1:p.Arg312His | |
| XM_017018540.2:c.1022G>A | XP_016874029.1:p.Arg341His | |
| XM_017018541.2:c.914G>A | XP_016874030.1:p.Arg305His | |
| XM_024448762.1:c.1172G>A | XP_024304530.1:p.Arg391His | |
| XR_001748027.1:n.1243G>A | ||
| XR_001748028.1:n.1225G>A | ||
| XR_428862.3:n.1103G>A | ||
| XR_428863.3:n.1099G>A | ||
| XR_930928.2:n.1124G>A | ||
| NM_001128225.3:c.1043G>A MANE Select | NP_001121697.2:p.Arg348His | |
| NM_001330245.2:c.*40G>A | NP_001317174.2:n.*40G>A | |
| NM_152264.5:c.1022G>A | NP_689477.3:p.Arg341His |