Linked Data
ClinVar Variation Id:
1908512
ClinVar RCV Id:
RCV002584261
dbSNP Id:
rs113828986
gnomAD v4:
10-58793470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58793470G>A , CM000672.2:g.58793470G>A | GRCh38 |
| NC_000010.10:g.60553230G>A , CM000672.1:g.60553230G>A | GRCh37 |
| NC_000010.9:g.60223236G>A | NCBI36 |
| NG_029759.2:g.285327G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.1048-14G>A MANE Select | ENSP00000362993.3:n.1048-14G>A | |
| ENST00000373886.7:c.1048-14G>A | ENSP00000362993.3:n.1048-14G>A | |
| NM_001080512.2:c.1048-14G>A | NP_001073981.1:n.1048-14G>A | |
| XM_005270169.3:c.907-14G>A | XP_005270226.1:n.907-14G>A | |
| XM_011540185.1:c.1120-14G>A | XP_011538487.1:n.1120-14G>A | |
| XM_011540186.1:c.1120-14G>A | XP_011538488.1:n.1120-14G>A | |
| XM_011540187.1:c.1120-14G>A | XP_011538489.1:n.1120-14G>A | |
| XM_011540188.1:c.904-14G>A | XP_011538490.1:n.904-14G>A | |
| XM_011540189.1:c.892-14G>A | XP_011538491.1:n.892-14G>A | |
| XM_011540190.1:c.808-14G>A | XP_011538492.1:n.808-14G>A | |
| XM_011540191.1:c.664-14G>A | XP_011538493.1:n.664-14G>A | |
| XM_005270169.5:c.907-14G>A | XP_005270226.1:n.907-14G>A | |
| XM_011540185.2:c.1120-14G>A | XP_011538487.1:n.1120-14G>A | |
| XM_011540190.3:c.808-14G>A | XP_011538492.1:n.808-14G>A | |
| XM_011540191.2:c.664-14G>A | XP_011538493.1:n.664-14G>A | |
| XM_017016677.1:c.916-14G>A | XP_016872166.1:n.916-14G>A | |
| XM_017016678.1:c.904-14G>A | XP_016872167.1:n.904-14G>A | |
| XM_024448174.1:c.1135-14G>A | XP_024303942.1:n.1135-14G>A | |
| XM_024448175.1:c.808-14G>A | XP_024303943.1:n.808-14G>A | |
| NM_001080512.3:c.1048-14G>A MANE Select | NP_001073981.1:n.1048-14G>A |