Linked Data
dbSNP Id:
rs2070586
gnomAD v2:
12-109277720-G-A
gnomAD v3:
12-108883944-G-A
gnomAD v4:
12-108883944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108883944G>A , CM000674.2:g.108883944G>A | GRCh38 |
| NC_000012.11:g.109277720G>A , CM000674.1:g.109277720G>A | GRCh37 |
| NC_000012.10:g.107801849G>A | NCBI36 |
| NG_023236.1:g.8864G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228476.8:c.-9-1054G>A MANE Select | ENSP00000228476.3:n.-9-1054G>A | |
| ENST00000228476.7:c.-9-1054G>A | ENSP00000228476.3:n.-9-1054G>A | |
| ENST00000547122.5:c.-9-1054G>A | ENSP00000448095.1:n.-9-1054G>A | |
| ENST00000547166.1:c.-9-1054G>A | ENSP00000447104.1:n.-9-1054G>A | |
| ENST00000547768.5:c.-61+3720G>A | ENSP00000449967.1:n.-61+3720G>A | |
| ENST00000549215.5:c.-9-1054G>A | ENSP00000449248.1:n.-9-1054G>A | |
| ENST00000551281.5:c.-9-1054G>A | ENSP00000446853.1:n.-9-1054G>A | |
| NM_001917.4:c.-9-1054G>A | NP_001908.3:n.-9-1054G>A | |
| XM_005268692.2:c.-9-1054G>A | XP_005268749.1:n.-9-1054G>A | |
| XM_011538004.1:c.-9-1054G>A | XP_011536306.1:n.-9-1054G>A | |
| XM_011538005.1:c.-9-1054G>A | XP_011536307.1:n.-9-1054G>A | |
| XM_005268692.4:c.-9-1054G>A | XP_005268749.1:n.-9-1054G>A | |
| XM_011538004.2:c.-9-1054G>A | XP_011536306.1:n.-9-1054G>A | |
| XM_011538005.2:c.-9-1054G>A | XP_011536307.1:n.-9-1054G>A | |
| NM_001917.5:c.-9-1054G>A MANE Select | NP_001908.3:n.-9-1054G>A |