Linked Data
ClinVar Variation Id:
735716
dbSNP Id:
rs753493085
ExAC:
19:44012937 G / A
gnomAD v2:
19-44012937-G-A
gnomAD v3:
19-43508785-G-A
gnomAD v4:
19-43508785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508785G>A , CM000681.2:g.43508785G>A | GRCh38 |
| NC_000019.9:g.44012937G>A , CM000681.1:g.44012937G>A | GRCh37 |
| NC_000019.8:g.48704777G>A | NCBI36 |
| NG_008141.1:g.23460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.585C>T MANE Select | ENSP00000292147.1:p.His195= | |
| ENST00000292147.6:c.585C>T | ENSP00000292147.1:p.His195= | |
| ENST00000594342.5:c.*148C>T | ENSP00000469652.1:n.*148C>T | |
| ENST00000598330.1:c.*148C>T | ENSP00000469219.1:n.*148C>T | |
| ENST00000600651.5:c.585C>T | ENSP00000469037.1:p.His195= | |
| NM_014297.3:c.585C>T | NP_055112.2:p.His195= | |
| XM_005258687.2:c.504C>T | XP_005258744.1:p.His168= | |
| XM_005258688.2:c.216C>T | XP_005258745.1:p.His72= | |
| XM_011526685.1:c.306C>T | XP_011524987.1:p.His102= | |
| NM_001320867.1:c.552C>T | NP_001307796.1:p.His184= | |
| NM_001320868.1:c.216C>T | NP_001307797.1:p.His72= | |
| NM_001320869.1:c.291C>T | NP_001307798.1:p.His97= | |
| NM_014297.4:c.585C>T | NP_055112.2:p.His195= | |
| XM_005258687.4:c.504C>T | XP_005258744.1:p.His168= | |
| NM_014297.5:c.585C>T MANE Select | NP_055112.2:p.His195= | |
| NM_001320867.2:c.552C>T | NP_001307796.1:p.His184= | |
| NM_001320868.2:c.216C>T | NP_001307797.1:p.His72= | |
| NM_001320869.2:c.291C>T | NP_001307798.1:p.His97= |