Linked Data
ClinVar Variation Id:
449103
dbSNP Id:
rs181639116
ExAC:
5:147498551 A / G
gnomAD v2:
5-147498551-A-G
gnomAD v3:
5-148118988-A-G
gnomAD v4:
5-148118988-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148118988A>G , CM000667.2:g.148118988A>G | GRCh38 |
| NC_000005.9:g.147498551A>G , CM000667.1:g.147498551A>G | GRCh37 |
| NC_000005.8:g.147478744A>G | NCBI36 |
| NG_009633.1:g.60017A>G , LRG_110:g.60017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2243A>G MANE Select | ENSP00000256084.7:p.Glu748Gly | |
| ENST00000256084.7:c.2243A>G | ENSP00000256084.7:p.Glu748Gly | |
| ENST00000359874.7:c.2243A>G | ENSP00000352936.3:p.Glu748Gly | |
| ENST00000398454.5:c.2243A>G | ENSP00000381472.1:p.Glu748Gly | |
| ENST00000507988.5:n.2407A>G | ||
| ENST00000508733.5:c.2186A>G | ENSP00000421519.1:p.Glu729Gly | |
| NM_001127698.1:c.2243A>G | NP_001121170.1:p.Glu748Gly | |
| NM_001127699.1:c.2243A>G | NP_001121171.1:p.Glu748Gly | |
| NM_006846.3:c.2243A>G , LRG_110t1:c.2243A>G | NP_006837.2:p.Glu748Gly | |
| XM_011537550.1:c.2186A>G | XP_011535852.1:p.Glu729Gly | |
| XM_011537551.1:c.2159A>G | XP_011535853.1:p.Glu720Gly | |
| XM_011537551.2:c.2159A>G | XP_011535853.1:p.Glu720Gly | |
| NM_001127698.2:c.2243A>G | NP_001121170.1:p.Glu748Gly | |
| NM_001127699.2:c.2243A>G | NP_001121171.1:p.Glu748Gly | |
| NM_006846.4:c.2243A>G MANE Select | NP_006837.2:p.Glu748Gly |