Linked Data
ClinVar Variation Id:
989137
ClinVar RCV Id:
RCV001391535
dbSNP Id:
rs1410690526
gnomAD v2:
16-74808464-C-A
gnomAD v3:
16-74774566-C-A
gnomAD v4:
16-74774566-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774566C>A , CM000678.2:g.74774566C>A | GRCh38 |
| NC_000016.9:g.74808464C>A , CM000678.1:g.74808464C>A | GRCh37 |
| NC_000016.8:g.73365965C>A | NCBI36 |
| NG_017070.1:g.5266G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.190G>T MANE Select | ENSP00000219368.3:p.Gly64Trp | |
| ENST00000219368.7:c.190G>T | ENSP00000219368.3:p.Gly64Trp | |
| ENST00000567683.5:c.190G>T | ENSP00000455126.1:p.Gly64Trp | |
| NM_024306.4:c.190G>T | NP_077282.3:p.Gly64Trp | |
| XM_011523317.1:c.190G>T | XP_011521619.1:p.Gly64Trp | |
| XM_011523318.1:c.190G>T | XP_011521620.1:p.Gly64Trp | |
| XM_011523317.3:c.190G>T | XP_011521619.1:p.Gly64Trp | |
| NM_024306.5:c.190G>T MANE Select | NP_077282.3:p.Gly64Trp |