Linked Data
ClinVar Variation Id:
1751469
ClinVar RCV Id:
RCV002360017
dbSNP Id:
rs773715764
ExAC:
12:40734231 G / A
gnomAD v2:
12-40734231-G-A
gnomAD v4:
12-40340429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340429G>A , CM000674.2:g.40340429G>A | GRCh38 |
| NC_000012.11:g.40734231G>A , CM000674.1:g.40734231G>A | GRCh37 |
| NC_000012.10:g.39020498G>A | NCBI36 |
| NG_011709.1:g.120419G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.6084G>A MANE Select | ENSP00000298910.7:p.Gly2028= | |
| ENST00000679360.1:c.*4993G>A | ENSP00000505368.1:n.*4993G>A | |
| ENST00000679532.1:c.1858G>A | ||
| ENST00000680018.1:c.1529G>A | ENSP00000505347.1:n.1529G>A | |
| ENST00000680422.1:c.1729G>A | ||
| ENST00000680425.1:c.1251G>A | ENSP00000506459.1:n.1251G>A | |
| ENST00000680453.1:c.1541G>A | ||
| ENST00000680790.1:c.5829G>A | ENSP00000505335.1:p.Gly1943= | |
| ENST00000681136.1:n.2068G>A | ||
| ENST00000681696.1:c.1767G>A | ENSP00000505871.1:p.Gly589= | |
| ENST00000298910.11:c.6084G>A | ENSP00000298910.7:p.Gly2028= | |
| ENST00000430804.5:c.3380G>A | ||
| ENST00000479187.5:n.2765G>A | ||
| NM_198578.3:c.6084G>A | NP_940980.3:p.Gly2028= | |
| XM_005268629.2:c.6084G>A | XP_005268686.1:p.Gly2028= | |
| XM_011537877.1:c.6084G>A | XP_011536179.1:p.Gly2028= | |
| XM_011537878.1:c.6084G>A | XP_011536180.1:p.Gly2028= | |
| XM_011537879.1:c.4881G>A | XP_011536181.1:p.Gly1627= | |
| XM_005268629.4:c.6084G>A | XP_005268686.1:p.Gly2028= | |
| XM_011537877.3:c.6084G>A | XP_011536179.1:p.Gly2028= | |
| XM_017018787.1:c.3000G>A | XP_016874276.1:p.Gly1000= | |
| XM_017018788.2:c.2346G>A | XP_016874277.1:p.Gly782= | |
| XM_024448833.1:c.4881G>A | XP_024304601.1:p.Gly1627= | |
| NM_198578.4:c.6084G>A MANE Select | NP_940980.4:p.Gly2028= |