Linked Data
ClinVar Variation Id:
1964482
ClinVar RCV Id:
RCV002721390
gnomAD v4:
11-72225122-C-A
MyVariant Identifiers:
chr11:g.71936166C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225122C>A , CM000673.2:g.72225122C>A | GRCh38 |
| NC_000011.9:g.71936166C>A , CM000673.1:g.71936166C>A | GRCh37 |
| NC_000011.8:g.71613814C>A | NCBI36 |
| NG_023253.1:g.5285C>A | |
| NG_023253.2:g.5285C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.138C>A MANE Select | ENSP00000298229.2:p.Val46= | |
| ENST00000298229.6:c.138C>A | ENSP00000298229.2:p.Val46= | |
| ENST00000541544.1:n.54C>A | ||
| NM_001567.3:c.138C>A | NP_001558.3:p.Val46= | |
| XM_005273978.3:c.138C>A | XP_005274035.1:p.Val46= | |
| XM_005273979.3:c.138C>A | XP_005274036.1:p.Val46= | |
| XM_011544999.1:c.138C>A | XP_011543301.1:p.Val46= | |
| XM_011545000.1:c.138C>A | XP_011543302.1:p.Val46= | |
| XM_005273979.4:c.138C>A | XP_005274036.1:p.Val46= | |
| XM_011544999.2:c.138C>A | XP_011543301.1:p.Val46= | |
| XM_024448501.1:c.138C>A | XP_024304269.1:p.Val46= | |
| XM_024448502.1:c.138C>A | XP_024304270.1:p.Val46= | |
| XM_024448503.1:c.17C>A | XP_024304271.1:p.Ser6Tyr | |
| XM_024448504.1:c.138C>A | XP_024304272.1:p.Val46= | |
| XM_024448505.1:c.138C>A | XP_024304273.1:p.Val46= | |
| NM_001567.4:c.138C>A MANE Select | NP_001558.3:p.Val46= |