Linked Data
dbSNP Id:
rs562873900
ExAC:
2:16085643 A / G
gnomAD v2:
2-16085643-A-G
gnomAD v4:
2-15945521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945521A>G , CM000664.2:g.15945521A>G | GRCh38 |
| NC_000002.11:g.16085643A>G , CM000664.1:g.16085643A>G | GRCh37 |
| NC_000002.10:g.16003094A>G | NCBI36 |
| NG_007457.1:g.9961A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.168A>G | ||
| ENST00000281043.4:c.819A>G MANE Select | ENSP00000281043.3:p.Glu273= | |
| ENST00000638417.1:c.186A>G | ENSP00000491476.1:p.Glu62= | |
| ENST00000281043.3:c.819A>G | ENSP00000281043.3:p.Glu273= | |
| NM_001293228.1:c.819A>G | NP_001280157.1:p.Glu273= | |
| NM_001293231.1:c.186A>G | NP_001280160.1:p.Glu62= | |
| NM_001293233.1:c.*754A>G | NP_001280162.1:n.*754A>G | |
| NM_005378.5:c.819A>G | NP_005369.2:p.Glu273= | |
| NM_005378.6:c.819A>G MANE Select | NP_005369.2:p.Glu273= | |
| NM_001293228.2:c.819A>G | NP_001280157.1:p.Glu273= | |
| NM_001293231.2:c.186A>G | NP_001280160.1:p.Glu62= | |
| NM_001293233.2:c.*754A>G | NP_001280162.1:n.*754A>G |