Linked Data
ClinVar Variation Id:
208728
dbSNP Id:
rs765086319
ExAC:
16:74760171 G / A
gnomAD v2:
16-74760171-G-A
gnomAD v4:
16-74726273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74726273G>A , CM000678.2:g.74726273G>A | GRCh38 |
| NC_000016.9:g.74760171G>A , CM000678.1:g.74760171G>A | GRCh37 |
| NC_000016.8:g.73317672G>A | NCBI36 |
| NG_017070.1:g.53559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.565C>T MANE Select | ENSP00000219368.3:p.Arg189Ter | |
| ENST00000219368.7:c.565C>T | ENSP00000219368.3:p.Arg189Ter | |
| ENST00000567683.5:c.364-7113C>T | ENSP00000455126.1:n.364-7113C>T | |
| ENST00000569949.1:c.367C>T | ENSP00000464576.1:p.Arg123Ter | |
| NM_024306.4:c.565C>T | NP_077282.3:p.Arg189Ter | |
| XM_011523317.1:c.565C>T | XP_011521619.1:p.Arg189Ter | |
| XM_011523318.1:c.565C>T | XP_011521620.1:p.Arg189Ter | |
| XM_011523319.1:c.325C>T | XP_011521621.1:p.Arg109Ter | |
| XM_011523317.3:c.565C>T | XP_011521619.1:p.Arg189Ter | |
| XM_011523319.2:c.325C>T | XP_011521621.1:p.Arg109Ter | |
| NM_024306.5:c.565C>T MANE Select | NP_077282.3:p.Arg189Ter |