Linked Data
ClinVar Variation Id:
320496
dbSNP Id:
rs138892784
ExAC:
16:74760166 G / T
gnomAD v2:
16-74760166-G-T
gnomAD v3:
16-74726268-G-T
gnomAD v4:
16-74726268-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74726268G>T , CM000678.2:g.74726268G>T | GRCh38 |
| NC_000016.9:g.74760166G>T , CM000678.1:g.74760166G>T | GRCh37 |
| NC_000016.8:g.73317667G>T | NCBI36 |
| NG_017070.1:g.53564C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.570C>A MANE Select | ENSP00000219368.3:p.Thr190= | |
| ENST00000219368.7:c.570C>A | ENSP00000219368.3:p.Thr190= | |
| ENST00000567683.5:c.364-7108C>A | ENSP00000455126.1:n.364-7108C>A | |
| ENST00000569949.1:c.372C>A | ENSP00000464576.1:p.Thr124= | |
| NM_024306.4:c.570C>A | NP_077282.3:p.Thr190= | |
| XM_011523317.1:c.570C>A | XP_011521619.1:p.Thr190= | |
| XM_011523318.1:c.570C>A | XP_011521620.1:p.Thr190= | |
| XM_011523319.1:c.330C>A | XP_011521621.1:p.Thr110= | |
| XM_011523317.3:c.570C>A | XP_011521619.1:p.Thr190= | |
| XM_011523319.2:c.330C>A | XP_011521621.1:p.Thr110= | |
| NM_024306.5:c.570C>A MANE Select | NP_077282.3:p.Thr190= |