Linked Data
ClinVar Variation Id:
795471
ClinVar RCV Id:
RCV000978799
dbSNP Id:
rs1593906853
gnomAD v4:
13-76992062-G-A
MyVariant Identifiers:
chr13:g.77566197G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992062G>A , CM000675.2:g.76992062G>A | GRCh38 |
| NC_000013.10:g.77566197G>A , CM000675.1:g.77566197G>A | GRCh37 |
| NC_000013.9:g.76464198G>A | NCBI36 |
| NG_009064.1:g.5139G>A , LRG_692:g.5139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485938.4:c.-37G>A | ENSP00000482959.3:n.-37G>A | |
| ENST00000636183.2:c.-37G>A | ENSP00000490181.2:n.-37G>A | |
| ENST00000636780.2:c.-37G>A | ENSP00000489809.2:n.-37G>A | |
| ENST00000377453.7:c.111G>A | ENSP00000366673.3:p.Gln37= | |
| NM_006493.2:c.111G>A , LRG_692t1:c.111G>A | NP_006484.1:p.Gln37= | |
| XM_011534917.1:c.111G>A | XP_011533219.1:p.Gln37= |