Linked Data
ClinVar Variation Id:
1938300
ClinVar RCV Id:
RCV002662567
dbSNP Id:
rs1015364883
gnomAD v2:
X-41307153-G-A
gnomAD v3:
X-41447900-G-A
gnomAD v4:
X-41447900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41447900G>A , CM000685.2:g.41447900G>A | GRCh38 |
| NC_000023.10:g.41307153G>A , CM000685.1:g.41307153G>A | GRCh37 |
| NC_000023.9:g.41192097G>A | NCBI36 |
| NG_009112.1:g.5441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.-5G>A | ENSP00000340328.3:n.-5G>A | |
| ENST00000378220.3:c.-5G>A MANE Select | ENSP00000367465.2:n.-5G>A | |
| ENST00000378220.2:c.11G>A | ENSP00000367465.1:p.Arg4Gln | |
| ENST00000342595.2:c.11G>A | ENSP00000340328.2:p.Arg4Gln | |
| ENST00000378220.1:c.11G>A | ENSP00000367465.1:p.Arg4Gln | |
| NM_022567.2:c.11G>A | NP_072089.1:p.Arg4Gln | |
| XM_005272632.2:c.11G>A | XP_005272689.1:p.Arg4Gln | |
| XM_017029709.1:c.11G>A | XP_016885198.1:p.Arg4Gln | |
| NM_001378477.3:c.-5G>A MANE Select | NP_001365406.2:n.-5G>A | |
| NM_022567.3:c.-5G>A | NP_072089.2:n.-5G>A |