Linked Data
dbSNP Id:
rs775764410
ExAC:
16:67976855 C / T
gnomAD v2:
16-67976855-C-T
gnomAD v3:
16-67942952-C-T
gnomAD v4:
16-67942952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942952C>T , CM000678.2:g.67942952C>T | GRCh38 |
| NC_000016.9:g.67976855C>T , CM000678.1:g.67976855C>T | GRCh37 |
| NC_000016.8:g.66534356C>T | NCBI36 |
| NG_009778.1:g.6161G>A | |
| NG_033098.1:g.30743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.336G>A MANE Select | ENSP00000264005.5:p.Gly112= | |
| ENST00000264005.9:c.336G>A | ENSP00000264005.5:p.Gly112= | |
| ENST00000570369.5:c.64G>A | ||
| ENST00000570980.1:c.120G>A | ENSP00000464651.1:p.Gly40= | |
| ENST00000575277.1:n.114G>A | ||
| ENST00000575467.5:c.*31G>A | ENSP00000460653.1:n.*31G>A | |
| NM_000229.1:c.336G>A | NP_000220.1:p.Gly112= | |
| NM_000229.2:c.336G>A MANE Select | NP_000220.1:p.Gly112= |