Linked Data
dbSNP Id:
rs748251646
ExAC:
7:117304800 A / G
gnomAD v2:
7-117304800-A-G
gnomAD v4:
7-117664746-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664746A>G , CM000669.2:g.117664746A>G | GRCh38 |
| NC_000007.13:g.117304800A>G , CM000669.1:g.117304800A>G | GRCh37 |
| NC_000007.12:g.117092036A>G | NCBI36 |
| NG_016465.4:g.203963A>G , LRG_663:g.203963A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*231A>G | ENSP00000497673.2:n.*231A>G | |
| ENST00000647978.2:c.*3736A>G | ENSP00000497658.1:n.*3736A>G | |
| ENST00000649781.2:c.3839A>G | ENSP00000497203.1:p.Asp1280Gly | |
| ENST00000685018.2:c.*235A>G | ENSP00000510194.2:n.*235A>G | |
| ENST00000687278.2:c.*675A>G | ENSP00000509593.2:n.*675A>G | |
| ENST00000699585.1:c.*231A>G | ENSP00000514456.1:n.*231A>G | |
| ENST00000699598.1:c.4022A>G | ENSP00000514467.1:p.Asp1341Gly | |
| ENST00000699599.1:c.*235A>G | ENSP00000514468.1:n.*235A>G | |
| ENST00000699600.1:c.*683A>G | ENSP00000514469.1:n.*683A>G | |
| ENST00000699601.1:c.*2397A>G | ENSP00000514470.1:n.*2397A>G | |
| ENST00000699602.1:c.4016A>G | ENSP00000514471.1:p.Asp1339Gly | |
| ENST00000699604.1:c.*3846A>G | ENSP00000514472.1:n.*3846A>G | |
| ENST00000699605.1:c.3596A>G | ENSP00000514473.1:p.Asp1199Gly | |
| ENST00000699606.1:n.2190A>G | ||
| ENST00000685018.1:c.886A>G | ENSP00000510194.1:n.886A>G | |
| ENST00000687278.1:c.1809A>G | ENSP00000509593.1:n.1809A>G | |
| ENST00000689011.1:c.604A>G | ||
| ENST00000003084.11:c.4022A>G MANE Select | ENSP00000003084.6:p.Asp1341Gly | |
| ENST00000647720.1:c.1472A>G | ||
| ENST00000649781.1:c.3839A>G | ENSP00000497203.1:p.Asp1280Gly | |
| ENST00000003084.10:c.4022A>G | ENSP00000003084.6:p.Asp1341Gly | |
| ENST00000426809.5:c.3932A>G | ENSP00000389119.1:p.Asp1311Gly | |
| ENST00000600166.1:c.148A>G | ||
| NM_000492.3:c.4022A>G , LRG_663t1:c.4022A>G | NP_000483.3:p.Asp1341Gly | |
| XM_011515751.1:c.4112A>G | XP_011514053.1:p.Asp1371Gly | |
| XM_011515752.1:c.4112A>G | XP_011514054.1:p.Asp1371Gly | |
| XM_011515753.1:c.3779A>G | XP_011514055.1:p.Asp1260Gly | |
| XM_011515754.1:c.3779A>G | XP_011514056.1:p.Asp1260Gly | |
| NM_000492.4:c.4022A>G MANE Select | NP_000483.3:p.Asp1341Gly |