Linked Data
ClinVar Variation Id:
242896
dbSNP Id:
rs782304760
ExAC:
12:121880194 C / T
gnomAD v2:
12-121880194-C-T
gnomAD v3:
12-121442391-C-T
gnomAD v4:
12-121442391-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121442391C>T , CM000674.2:g.121442391C>T | GRCh38 |
| NC_000012.11:g.121880194C>T , CM000674.1:g.121880194C>T | GRCh37 |
| NC_000012.10:g.120364577C>T | NCBI36 |
| NG_033820.1:g.143625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377071.9:c.3050G>A MANE Select | ENSP00000366271.3:p.Arg1017His | |
| ENST00000377069.8:c.2843G>A | ENSP00000366269.3:p.Arg948His | |
| ENST00000377071.8:c.3050G>A | ENSP00000366271.3:p.Arg1017His | |
| ENST00000536437.5:c.2104-2518G>A | ENSP00000445196.2:n.2104-2518G>A | |
| ENST00000538503.5:n.4196G>A | ||
| ENST00000542973.5:c.1154G>A | ENSP00000437821.1:p.Arg385His | |
| ENST00000543025.5:c.*1565+10729G>A | ENSP00000438138.1:n.*1565+10729G>A | |
| ENST00000611216.4:c.1608+10729G>A | ENSP00000480847.1:n.1608+10729G>A | |
| NM_001005366.1:c.2843G>A | NP_001005366.1:p.Arg948His | |
| NM_032590.4:c.3050G>A | NP_115979.3:p.Arg1017His | |
| XM_005253955.2:c.2957G>A | XP_005254012.1:p.Arg986His | |
| XM_005253956.2:c.2939G>A | XP_005254013.1:p.Arg980His | |
| XM_005253961.3:c.1370G>A | XP_005254018.1:p.Arg457His | |
| XM_011538860.1:c.3059G>A | XP_011537162.1:p.Arg1020His | |
| XM_011538861.1:c.3050G>A | XP_011537163.1:p.Arg1017His | |
| XM_011538862.1:c.2996G>A | XP_011537164.1:p.Arg999His | |
| XM_011538863.1:c.2972G>A | XP_011537165.1:p.Arg991His | |
| XM_011538864.1:c.2966G>A | XP_011537166.1:p.Arg989His | |
| XM_011538865.1:c.2948G>A | XP_011537167.1:p.Arg983His | |
| XM_011538866.1:c.2945G>A | XP_011537168.1:p.Arg982His | |
| XM_011538867.1:c.3059G>A | XP_011537169.1:p.Arg1020His | |
| XM_011538868.1:c.3059G>A | XP_011537170.1:p.Arg1020His | |
| XM_011538869.1:c.3059G>A | XP_011537171.1:p.Arg1020His | |
| XM_011538870.1:c.3002G>A | XP_011537172.1:p.Arg1001His | |
| XM_011538871.1:c.2366G>A | XP_011537173.1:p.Arg789His | |
| XM_011538872.1:c.1976G>A | XP_011537174.1:p.Arg659His | |
| XM_011538873.1:c.1379G>A | XP_011537175.1:p.Arg460His | |
| XM_011538874.1:c.1370G>A | XP_011537176.1:p.Arg457His | |
| XM_011538875.1:c.1379G>A | XP_011537177.1:p.Arg460His | |
| XM_005253955.4:c.2957G>A | XP_005254012.1:p.Arg986His | |
| XM_005253956.4:c.2939G>A | XP_005254013.1:p.Arg980His | |
| XM_005253961.5:c.1370G>A | XP_005254018.1:p.Arg457His | |
| XM_011538867.3:c.3059G>A | XP_011537169.1:p.Arg1020His | |
| XM_011538868.3:c.3059G>A | XP_011537170.1:p.Arg1020His | |
| XM_011538869.2:c.3059G>A | XP_011537171.1:p.Arg1020His | |
| XM_011538875.3:c.1379G>A | XP_011537177.1:p.Arg460His | |
| NM_032590.5:c.3050G>A MANE Select | NP_115979.3:p.Arg1017His | |
| NM_001005366.2:c.2843G>A | NP_001005366.1:p.Arg948His |