Linked Data
ClinVar Variation Id:
1539520
ClinVar RCV Id:
RCV002154621
dbSNP Id:
rs758383567
ExAC:
11:64527290 C / T
gnomAD v2:
11-64527290-C-T
gnomAD v4:
11-64759818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759818C>T , CM000673.2:g.64759818C>T | GRCh38 |
| NC_000011.9:g.64527290C>T , CM000673.1:g.64527290C>T | GRCh37 |
| NC_000011.8:g.64283866C>T | NCBI36 |
| NG_013018.1:g.5898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.81G>A MANE Select | ENSP00000164139.3:p.Glu27= | |
| ENST00000164139.3:c.81G>A | ENSP00000164139.3:p.Glu27= | |
| ENST00000377432.7:c.81G>A | ENSP00000366650.3:p.Glu27= | |
| NM_001164716.1:c.81G>A | NP_001158188.1:p.Glu27= | |
| NM_005609.2:c.81G>A | NP_005600.1:p.Glu27= | |
| NM_005609.3:c.81G>A | NP_005600.1:p.Glu27= | |
| NM_005609.4:c.81G>A MANE Select | NP_005600.1:p.Glu27= |