Linked Data
dbSNP Id:
rs10119
gnomAD v2:
19-45406673-G-A
gnomAD v3:
19-44903416-G-A
gnomAD v4:
19-44903416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44903416G>A , CM000681.2:g.44903416G>A | GRCh38 |
| NC_000019.9:g.45406673G>A , CM000681.1:g.45406673G>A | GRCh37 |
| NC_000019.8:g.50098513G>A | NCBI36 |
| NG_007084.2:g.2635G>A | |
| NG_042854.1:g.17197G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426677.7:c.*247G>A MANE Select | ENSP00000410339.1:n.*247G>A | |
| ENST00000252487.9:c.*247G>A | ENSP00000252487.4:n.*247G>A | |
| ENST00000405636.6:c.*247G>A | ENSP00000385184.2:n.*247G>A | |
| ENST00000426677.6:c.*247G>A | ENSP00000410339.1:n.*247G>A | |
| ENST00000592434.5:c.*2062G>A | ENSP00000466084.1:n.*2062G>A | |
| NM_001128916.1:c.*247G>A | NP_001122388.1:n.*247G>A | |
| NM_001128917.1:c.*247G>A | NP_001122389.1:n.*247G>A | |
| NM_006114.2:c.*247G>A | NP_006105.1:n.*247G>A | |
| NM_001128917.2:c.*247G>A MANE Select | NP_001122389.1:n.*247G>A | |
| NM_006114.3:c.*247G>A | NP_006105.1:n.*247G>A | |
| NM_001128916.2:c.*247G>A | NP_001122388.1:n.*247G>A |