Linked Data
ClinVar Variation Id:
1470616
ClinVar RCV Id:
RCV001964267
dbSNP Id:
rs369851110
ExAC:
19:1106408 G / C
gnomAD v2:
19-1106408-G-C
gnomAD v4:
19-1106409-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106409G>C , CM000681.2:g.1106409G>C | GRCh38 |
| NC_000019.9:g.1106408G>C , CM000681.1:g.1106408G>C | GRCh37 |
| NC_000019.8:g.1057408G>C | NCBI36 |
| NG_050621.1:g.7484G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.622G>C | ENSP00000473614.3:p.Asp208His | |
| ENST00000593032.6:c.491G>C | ENSP00000465828.4:p.Arg164Pro | |
| ENST00000706713.1:c.505G>C | ENSP00000516510.1:p.Asp169His | |
| ENST00000706714.1:c.491G>C | ENSP00000516511.1:p.Arg164Pro | |
| ENST00000706715.1:c.127G>C | ENSP00000516512.1:p.Asp43His | |
| ENST00000354171.13:c.511G>C MANE Select | ENSP00000346103.7:p.Asp171His | |
| ENST00000589115.6:c.486G>C | ENSP00000466872.3:p.Ser162= | |
| ENST00000354171.12:c.511G>C | ENSP00000346103.7:p.Asp171His | |
| ENST00000585480.1:c.244G>C | ENSP00000467900.1:p.Asp82His | |
| ENST00000587648.5:c.391G>C | ENSP00000468349.1:p.Asp131His | |
| ENST00000588919.5:c.452G>C | ENSP00000464989.3:p.Arg151Pro | |
| ENST00000589115.5:c.486G>C | ENSP00000466872.2:p.Ser162= | |
| ENST00000592940.2:n.882G>C | ||
| ENST00000593032.5:c.491G>C | ENSP00000465828.3:p.Arg164Pro | |
| ENST00000611653.4:c.430G>C | ENSP00000483655.1:p.Asp144His | |
| ENST00000616066.4:c.508G>C | ENSP00000485000.1:p.Asp170His | |
| ENST00000622390.4:c.619G>C | ENSP00000477503.1:p.Asp207His | |
| NM_001039847.2:c.533G>C | NP_001034936.1:p.Arg178Pro | |
| NM_001039848.2:c.622G>C | NP_001034937.1:p.Asp208His | |
| NM_002085.4:c.511G>C | NP_002076.2:p.Asp171His | |
| NM_001039848.3:c.622G>C | NP_001034937.1:p.Asp208His | |
| NM_001039847.3:c.533G>C | NP_001034936.1:p.Arg178Pro | |
| NM_001039848.4:c.622G>C | NP_001034937.1:p.Asp208His | |
| NM_001367832.1:c.430G>C | NP_001354761.1:p.Asp144His | |
| NM_002085.5:c.511G>C MANE Select | NP_002076.2:p.Asp171His |