Linked Data
dbSNP Id:
rs762089117
ExAC:
11:67378979 A / G
gnomAD v2:
11-67378979-A-G
gnomAD v4:
11-67611508-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611508A>G , CM000673.2:g.67611508A>G | GRCh38 |
| NC_000011.9:g.67378979A>G , CM000673.1:g.67378979A>G | GRCh37 |
| NC_000011.8:g.67135555A>G | NCBI36 |
| NG_013353.1:g.9657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1019A>G MANE Select | ENSP00000322450.6:p.Asp340Gly | |
| ENST00000647561.1:c.1019A>G | ENSP00000497587.1:p.Asp340Gly | |
| ENST00000322776.10:c.1019A>G | ENSP00000322450.6:p.Asp340Gly | |
| ENST00000415352.6:c.998A>G | ENSP00000395368.2:p.Asp333Gly | |
| ENST00000526169.1:n.656-14A>G | ||
| ENST00000526770.5:n.1302A>G | ||
| ENST00000527355.5:c.308A>G | ENSP00000432637.1:p.Asp103Gly | |
| ENST00000527923.1:n.361A>G | ||
| ENST00000529927.5:c.992A>G | ENSP00000436766.1:p.Asp331Gly | |
| ENST00000532303.5:c.716A>G | ENSP00000432015.1:p.Asp239Gly | |
| ENST00000533919.5:c.423A>G | ENSP00000435199.1:n.423A>G | |
| NM_001166102.1:c.992A>G | NP_001159574.1:p.Asp331Gly | |
| NM_007103.3:c.1019A>G | NP_009034.2:p.Asp340Gly | |
| NM_001166102.2:c.992A>G | NP_001159574.1:p.Asp331Gly | |
| NM_007103.4:c.1019A>G MANE Select | NP_009034.2:p.Asp340Gly |