Linked Data
ClinVar Variation Id:
727129
dbSNP Id:
rs202230011
ExAC:
11:8111148 G / A
gnomAD v2:
11-8111148-G-A
gnomAD v3:
11-8089601-G-A
gnomAD v4:
11-8089601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8089601G>A , CM000673.2:g.8089601G>A | GRCh38 |
| NC_000011.9:g.8111148G>A , CM000673.1:g.8111148G>A | GRCh37 |
| NC_000011.8:g.8067724G>A | NCBI36 |
| NG_029912.1:g.55969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.39-9G>A MANE Select | ENSP00000299506.3:n.39-9G>A | |
| ENST00000299506.2:c.39-9G>A | ENSP00000299506.2:n.39-9G>A | |
| ENST00000305253.8:c.204-9G>A | ENSP00000305426.4:n.204-9G>A | |
| ENST00000534099.5:c.57-9G>A | ENSP00000434400.1:n.57-9G>A | |
| NM_003320.4:c.204-9G>A | NP_003311.2:n.204-9G>A | |
| NM_177972.2:c.39-9G>A | NP_813977.1:n.39-9G>A | |
| XM_005253109.2:c.165-9G>A | XP_005253166.1:n.165-9G>A | |
| XM_011520344.1:c.75-9G>A | XP_011518646.1:n.75-9G>A | |
| XM_005253109.3:c.165-9G>A | XP_005253166.1:n.165-9G>A | |
| XM_011520344.2:c.75-9G>A | XP_011518646.1:n.75-9G>A | |
| NM_177972.3:c.39-9G>A MANE Select | NP_813977.1:n.39-9G>A | |
| NM_003320.5:c.204-9G>A | NP_003311.2:n.204-9G>A |