Linked Data
dbSNP Id:
rs763956969
ExAC:
16:88876533 G / A
gnomAD v2:
16-88876533-G-A
gnomAD v3:
16-88810125-G-A
gnomAD v4:
16-88810125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810125G>A , CM000678.2:g.88810125G>A | GRCh38 |
| NC_000016.9:g.88876533G>A , CM000678.1:g.88876533G>A | GRCh37 |
| NC_000016.8:g.87404034G>A | NCBI36 |
| NG_008013.1:g.6810C>T | |
| NG_028266.1:g.11348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.345C>T MANE Select | ENSP00000367615.3:p.Asp115= | |
| ENST00000378364.7:c.345C>T | ENSP00000367615.3:p.Asp115= | |
| ENST00000426324.6:c.345C>T | ENSP00000397007.2:p.Asp115= | |
| ENST00000562464.1:n.355C>T | ||
| ENST00000563655.5:c.264C>T | ENSP00000456012.1:p.Asp88= | |
| ENST00000567057.5:n.144C>T | ||
| ENST00000567391.5:c.*19C>T | ENSP00000457964.1:n.*19C>T | |
| ENST00000567713.5:c.321+298C>T | ENSP00000455749.1:n.321+298C>T | |
| ENST00000568319.5:c.*19C>T | ENSP00000456905.1:n.*19C>T | |
| ENST00000568575.1:n.274C>T | ||
| ENST00000569616.1:c.343C>T | ||
| NM_000485.2:c.345C>T | NP_000476.1:p.Asp115= | |
| NM_001030018.1:c.345C>T | NP_001025189.1:p.Asp115= | |
| NM_000485.3:c.345C>T MANE Select | NP_000476.1:p.Asp115= | |
| NM_001030018.2:c.345C>T | NP_001025189.1:p.Asp115= |