Linked Data
ClinVar Variation Id:
1015924
dbSNP Id:
rs1354118542
gnomAD v2:
12-48371117-C-G
gnomAD v4:
12-47977334-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977334C>G , CM000674.2:g.47977334C>G | GRCh38 |
| NC_000012.11:g.48371117C>G , CM000674.1:g.48371117C>G | GRCh37 |
| NC_000012.10:g.46657384C>G | NCBI36 |
| NG_008072.1:g.32169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.3052G>C | ENSP00000338213.6:p.Asp1018His | |
| ENST00000380518.8:c.3259G>C MANE Select | ENSP00000369889.3:p.Asp1087His | |
| ENST00000337299.6:c.3052G>C | ENSP00000338213.6:p.Asp1018His | |
| ENST00000380518.7:c.3259G>C | ENSP00000369889.3:p.Asp1087His | |
| ENST00000493991.5:n.2345G>C | ||
| ENST00000546974.1:n.112G>C | ||
| NM_001844.4:c.3259G>C | NP_001835.3:p.Asp1087His | |
| NM_033150.2:c.3052G>C | NP_149162.2:p.Asp1018His | |
| XM_006719242.2:c.3403G>C | XP_006719305.2:p.Asp1135His | |
| XM_011537928.1:c.3403G>C | XP_011536230.1:p.Asp1135His | |
| XM_011537929.1:c.3403G>C | XP_011536231.1:p.Asp1135His | |
| XM_011537930.1:c.3403G>C | XP_011536232.1:p.Asp1135His | |
| XM_011537931.1:c.3403G>C | XP_011536233.1:p.Asp1135His | |
| XM_011537932.1:c.3403G>C | XP_011536234.1:p.Asp1135His | |
| XM_011537933.1:c.3403G>C | XP_011536235.1:p.Asp1135His | |
| XM_011537934.1:c.3400G>C | XP_011536236.1:p.Asp1134His | |
| XM_011537935.1:c.2347G>C | XP_011536237.1:p.Asp783His | |
| XM_017018828.1:c.3403G>C | XP_016874317.1:p.Asp1135His | |
| XM_017018829.1:c.3400G>C | XP_016874318.1:p.Asp1134His | |
| XM_017018830.1:c.3193G>C | XP_016874319.1:p.Asp1065His | |
| XM_017018831.2:c.2713G>C | XP_016874320.1:p.Asp905His | |
| NM_001844.5:c.3259G>C MANE Select | NP_001835.3:p.Asp1087His | |
| NM_033150.3:c.3052G>C | NP_149162.2:p.Asp1018His |