Linked Data
ClinVar Variation Id:
2003095
ClinVar RCV Id:
RCV002833134
gnomAD v4:
11-8090125-G-A
MyVariant Identifiers:
chr11:g.8111672G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090125G>A , CM000673.2:g.8090125G>A | GRCh38 |
| NC_000011.9:g.8111672G>A , CM000673.1:g.8111672G>A | GRCh37 |
| NC_000011.8:g.8068248G>A | NCBI36 |
| NG_029912.1:g.56493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.147G>A MANE Select | ENSP00000299506.3:p.Gln49= | |
| ENST00000299506.2:c.147G>A | ENSP00000299506.2:p.Gln49= | |
| ENST00000305253.8:c.312G>A | ENSP00000305426.4:p.Gln104= | |
| ENST00000534099.5:c.165G>A | ENSP00000434400.1:p.Gln55= | |
| NM_003320.4:c.312G>A | NP_003311.2:p.Gln104= | |
| NM_177972.2:c.147G>A | NP_813977.1:p.Gln49= | |
| XM_005253109.2:c.273G>A | XP_005253166.1:p.Gln91= | |
| XM_011520344.1:c.183G>A | XP_011518646.1:p.Gln61= | |
| XM_005253109.3:c.273G>A | XP_005253166.1:p.Gln91= | |
| XM_011520344.2:c.183G>A | XP_011518646.1:p.Gln61= | |
| NM_177972.3:c.147G>A MANE Select | NP_813977.1:p.Gln49= | |
| NM_003320.5:c.312G>A | NP_003311.2:p.Gln104= |