Linked Data
dbSNP Id:
rs1230182165
gnomAD v2:
19-1104056-G-A
gnomAD v3:
19-1104057-G-A
gnomAD v4:
19-1104057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104057G>A , CM000681.2:g.1104057G>A | GRCh38 |
| NC_000019.9:g.1104056G>A , CM000681.1:g.1104056G>A | GRCh37 |
| NC_000019.8:g.1055056G>A | NCBI36 |
| NG_050621.1:g.5132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706713.1:c.14G>A | ENSP00000516510.1:p.Arg5His | |
| ENST00000354171.13:c.14G>A MANE Select | ENSP00000346103.7:p.Arg5His | |
| ENST00000589115.6:c.14G>A | ENSP00000466872.3:p.Arg5His | |
| ENST00000354171.12:c.14G>A | ENSP00000346103.7:p.Arg5His | |
| ENST00000589115.5:c.14G>A | ENSP00000466872.2:p.Arg5His | |
| ENST00000611653.4:c.-68G>A | ENSP00000483655.1:n.-68G>A | |
| ENST00000616066.4:c.14G>A | ENSP00000485000.1:p.Arg5His | |
| NM_001039847.2:c.14G>A | NP_001034936.1:p.Arg5His | |
| NM_002085.4:c.14G>A | NP_002076.2:p.Arg5His | |
| NM_001039847.3:c.14G>A | NP_001034936.1:p.Arg5His | |
| NM_001367832.1:c.-68G>A | NP_001354761.1:n.-68G>A | |
| NM_002085.5:c.14G>A MANE Select | NP_002076.2:p.Arg5His |