Linked Data
ClinVar Variation Id:
388646
dbSNP Id:
rs149163610
ExAC:
16:30764586 A / G
gnomAD v2:
16-30764586-A-G
gnomAD v3:
16-30753265-A-G
gnomAD v4:
16-30753265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753265A>G , CM000678.2:g.30753265A>G | GRCh38 |
| NC_000016.9:g.30764586A>G , CM000678.1:g.30764586A>G | GRCh37 |
| NC_000016.8:g.30672087A>G | NCBI36 |
| NG_016616.1:g.9967A>G | |
| NG_016616.2:g.9967A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563588.6:c.360A>G MANE Select | ENSP00000455607.1:p.Thr120= | |
| ENST00000328273.11:c.360A>G | ENSP00000329968.7:p.Thr120= | |
| ENST00000424889.7:c.360A>G | ENSP00000388571.3:p.Thr120= | |
| ENST00000561712.1:c.34A>G | ||
| ENST00000563588.5:c.360A>G | ENSP00000455607.1:p.Thr120= | |
| ENST00000563607.1:c.*32A>G | ENSP00000454641.1:n.*32A>G | |
| ENST00000563913.5:n.693A>G | ||
| ENST00000564838.5:n.734A>G | ||
| ENST00000565897.5:c.360A>G | ENSP00000457359.1:p.Thr120= | |
| ENST00000565924.5:c.360A>G | ENSP00000455091.1:p.Thr120= | |
| ENST00000569684.1:n.772A>G | ||
| NM_000294.2:c.360A>G | NP_000285.1:p.Thr120= | |
| NM_001172432.1:c.360A>G | NP_001165903.1:p.Thr120= | |
| NM_000294.3:c.360A>G MANE Select | NP_000285.1:p.Thr120= | |
| NM_001172432.2:c.360A>G | NP_001165903.1:p.Thr120= |