Linked Data
ClinVar Variation Id:
784704
ClinVar RCV Id:
RCV000966466
dbSNP Id:
rs768500706
ExAC:
2:204820675 A / G
gnomAD v2:
2-204820675-A-G
gnomAD v3:
2-203955952-A-G
gnomAD v4:
2-203955952-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203955952A>G , CM000664.2:g.203955952A>G | GRCh38 |
| NC_000002.11:g.204820675A>G , CM000664.1:g.204820675A>G | GRCh37 |
| NC_000002.10:g.204528920A>G | NCBI36 |
| NG_011586.1:g.24173A>G , LRG_65:g.24173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.375A>G MANE Select | ENSP00000319476.6:p.Gly125= | |
| ENST00000316386.10:c.375A>G | ENSP00000319476.6:p.Gly125= | |
| ENST00000435193.1:c.375A>G | ENSP00000415951.1:p.Gly125= | |
| NM_012092.3:c.375A>G , LRG_65t1:c.375A>G | NP_036224.1:p.Gly125= | |
| XM_011511028.1:c.375A>G | XP_011509330.1:p.Gly125= | |
| XM_011511029.1:c.378A>G | XP_011509331.1:p.Gly126= | |
| XM_011511030.1:c.288A>G | XP_011509332.1:p.Gly96= | |
| XM_011511031.1:c.288A>G | XP_011509333.1:p.Gly96= | |
| NM_012092.4:c.375A>G MANE Select | NP_036224.1:p.Gly125= |