Linked Data
ClinVar Variation Id:
1923497
dbSNP Id:
rs774669551
ExAC:
12:45795672 G / A
gnomAD v2:
12-45795672-G-A
gnomAD v3:
12-45401889-G-A
gnomAD v4:
12-45401889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45401889G>A , CM000674.2:g.45401889G>A | GRCh38 |
| NC_000012.11:g.45795672G>A , CM000674.1:g.45795672G>A | GRCh37 |
| NC_000012.10:g.44081939G>A | NCBI36 |
| NG_028220.1:g.190903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.1481G>A MANE Select | ENSP00000320087.8:p.Gly494Glu | |
| ENST00000679426.1:c.1448G>A | ENSP00000506600.1:p.Gly483Glu | |
| ENST00000679761.1:c.1481G>A | ENSP00000505361.1:p.Gly494Glu | |
| ENST00000680201.1:c.1481G>A | ENSP00000506222.1:p.Gly494Glu | |
| ENST00000680371.1:c.1481G>A | ENSP00000506392.1:p.Gly494Glu | |
| ENST00000680498.1:c.1064G>A | ENSP00000506613.1:p.Gly355Glu | |
| ENST00000681156.1:c.1481G>A | ENSP00000506069.1:p.Gly494Glu | |
| ENST00000681817.1:c.1064G>A | ENSP00000506683.1:p.Gly355Glu | |
| ENST00000320560.12:c.1481G>A | ENSP00000320087.8:p.Gly494Glu | |
| ENST00000423947.7:c.1544G>A | ENSP00000409126.3:p.Gly515Glu | |
| ENST00000425752.6:c.1481G>A | ENSP00000391417.2:p.Gly494Glu | |
| ENST00000426898.2:n.1897G>A | ||
| ENST00000441606.2:c.1427G>A | ENSP00000413137.2:p.Gly476Glu | |
| NM_001025356.2:c.1481G>A | NP_001020527.2:p.Gly494Glu | |
| NM_001142678.1:c.1427G>A | NP_001136150.1:p.Gly476Glu | |
| NM_001142679.1:c.1481G>A | NP_001136151.1:p.Gly494Glu | |
| NM_001204803.1:c.1544G>A | NP_001191732.1:p.Gly515Glu | |
| XM_005268706.3:c.1448G>A | XP_005268763.1:p.Gly483Glu | |
| XM_005268707.2:c.1382G>A | XP_005268764.1:p.Gly461Glu | |
| XM_011538024.1:c.1544G>A | XP_011536326.1:p.Gly515Glu | |
| XR_944886.1:n.1352-3665C>T | ||
| XR_944888.1:n.1352-3665C>T | ||
| XM_005268706.5:c.1448G>A | XP_005268763.1:p.Gly483Glu | |
| XM_005268707.4:c.1382G>A | XP_005268764.1:p.Gly461Glu | |
| XR_001749096.1:n.1353-3665C>T | ||
| XR_944886.2:n.1353-3665C>T | ||
| NM_001025356.3:c.1481G>A MANE Select | NP_001020527.2:p.Gly494Glu | |
| NM_001142678.2:c.1427G>A | NP_001136150.1:p.Gly476Glu | |
| NM_001142679.2:c.1481G>A | NP_001136151.1:p.Gly494Glu | |
| NM_001204803.2:c.1544G>A | NP_001191732.1:p.Gly515Glu |