Linked Data
ClinVar Variation Id:
2313
ClinVar RCV Id:
RCV002251858
dbSNP Id:
rs119103259
ExAC:
11:64519069 C / T
gnomAD v2:
11-64519069-C-T
gnomAD v4:
11-64751597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751597C>T , CM000673.2:g.64751597C>T | GRCh38 |
| NC_000011.9:g.64519069C>T , CM000673.1:g.64519069C>T | GRCh37 |
| NC_000011.8:g.64275645C>T | NCBI36 |
| NG_013018.1:g.14119G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1827G>A MANE Select | ENSP00000164139.3:p.Lys609= | |
| ENST00000164139.3:c.1827G>A | ENSP00000164139.3:p.Lys609= | |
| ENST00000377432.7:c.1563G>A | ENSP00000366650.3:p.Lys521= | |
| ENST00000462303.1:n.151G>A | ||
| NM_001164716.1:c.1563G>A | NP_001158188.1:p.Lys521= | |
| NM_005609.2:c.1827G>A | NP_005600.1:p.Lys609= | |
| NM_005609.3:c.1827G>A | NP_005600.1:p.Lys609= | |
| NM_005609.4:c.1827G>A MANE Select | NP_005600.1:p.Lys609= |