Linked Data
ClinVar Variation Id:
265683
dbSNP Id:
rs769222264
ExAC:
16:81124208 G / A
gnomAD v2:
16-81124208-G-A
gnomAD v4:
16-81090603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81090603G>A , CM000678.2:g.81090603G>A | GRCh38 |
| NC_000016.9:g.81124208G>A , CM000678.1:g.81124208G>A | GRCh37 |
| NC_000016.8:g.79681709G>A | NCBI36 |
| NG_016427.1:g.10773C>T , LRG_541:g.10773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315467.9:c.226C>T MANE Select | ENSP00000319531.3:p.Gln76Ter | |
| ENST00000561801.2:c.127+5528C>T | ENSP00000457645.2:n.127+5528C>T | |
| ENST00000564386.6:c.213C>T | ||
| ENST00000564536.2:c.226C>T | ENSP00000491651.1:p.Gln76Ter | |
| ENST00000566566.2:c.111C>T | ||
| ENST00000569885.6:c.188C>T | ||
| ENST00000638192.1:c.131+5528C>T | ||
| ENST00000638948.1:c.181C>T | ENSP00000491484.1:p.Gln61Ter | |
| ENST00000639137.1:n.659C>T | ||
| ENST00000639169.1:c.226C>T | ENSP00000491127.1:p.Gln76Ter | |
| ENST00000639689.1:c.149-2939C>T | ENSP00000492187.1:n.149-2939C>T | |
| ENST00000640150.1:c.66C>T | ||
| ENST00000640345.1:c.226C>T | ENSP00000492798.1:p.Gln76Ter | |
| ENST00000640370.1:c.226C>T | ENSP00000492599.1:p.Gln76Ter | |
| ENST00000315467.7:c.226C>T | ENSP00000319531.3:p.Gln76Ter | |
| ENST00000561801.1:c.127+5528C>T | ||
| ENST00000564386.5:c.210C>T | ||
| ENST00000564477.1:c.*184C>T | ENSP00000455287.1:n.*184C>T | |
| ENST00000566566.1:c.226C>T | ENSP00000455019.1:p.Gln76Ter | |
| ENST00000569885.5:c.188C>T | ||
| NM_004483.4:c.226C>T , LRG_541t1:c.226C>T | NP_004474.2:p.Gln76Ter | |
| NR_033249.1:n.323C>T | ||
| XM_017023136.2:c.226C>T | XP_016878625.1:p.Gln76Ter | |
| XM_017023137.1:c.172C>T | XP_016878626.1:p.Gln58Ter | |
| NM_004483.5:c.226C>T MANE Select | NP_004474.2:p.Gln76Ter | |
| NR_033249.2:n.343C>T |