Linked Data
ClinVar Variation Id:
320497
dbSNP Id:
rs150423523
ExAC:
16:74760196 C / A
gnomAD v2:
16-74760196-C-A
gnomAD v3:
16-74726298-C-A
gnomAD v4:
16-74726298-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74726298C>A , CM000678.2:g.74726298C>A | GRCh38 |
| NC_000016.9:g.74760196C>A , CM000678.1:g.74760196C>A | GRCh37 |
| NC_000016.8:g.73317697C>A | NCBI36 |
| NG_017070.1:g.53534G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.540G>T MANE Select | ENSP00000219368.3:p.Val180= | |
| ENST00000219368.7:c.540G>T | ENSP00000219368.3:p.Val180= | |
| ENST00000567683.5:c.364-7138G>T | ENSP00000455126.1:n.364-7138G>T | |
| ENST00000569949.1:c.342G>T | ENSP00000464576.1:p.Val114= | |
| NM_024306.4:c.540G>T | NP_077282.3:p.Val180= | |
| XM_011523317.1:c.540G>T | XP_011521619.1:p.Val180= | |
| XM_011523318.1:c.540G>T | XP_011521620.1:p.Val180= | |
| XM_011523319.1:c.300G>T | XP_011521621.1:p.Val100= | |
| XM_011523317.3:c.540G>T | XP_011521619.1:p.Val180= | |
| XM_011523319.2:c.300G>T | XP_011521621.1:p.Val100= | |
| NM_024306.5:c.540G>T MANE Select | NP_077282.3:p.Val180= |