Linked Data
ClinVar Variation Id:
522247
dbSNP Id:
rs17887074
ExAC:
1:22964176 G / A
gnomAD v2:
1-22964176-G-A
gnomAD v3:
1-22637683-G-A
gnomAD v4:
1-22637683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22637683G>A , CM000663.2:g.22637683G>A | GRCh38 |
| NC_000001.10:g.22964176G>A , CM000663.1:g.22964176G>A | GRCh37 |
| NC_000001.9:g.22836763G>A | NCBI36 |
| NG_007282.1:g.6059G>A , LRG_22:g.6059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402322.2:c.67G>A | ENSP00000385564.1:p.Glu23Lys | |
| ENST00000438241.2:c.67G>A | ENSP00000416841.2:p.Glu23Lys | |
| ENST00000695738.1:c.-212-1150G>A | ENSP00000512131.1:n.-212-1150G>A | |
| ENST00000695739.1:c.67G>A | ENSP00000512132.1:p.Glu23Lys | |
| ENST00000695740.1:c.67G>A | ENSP00000512133.1:p.Glu23Lys | |
| ENST00000695741.1:c.67G>A | ENSP00000512134.1:p.Glu23Lys | |
| ENST00000695742.1:c.67G>A | ENSP00000512135.1:p.Glu23Lys | |
| ENST00000695743.1:c.67G>A | ENSP00000512136.1:p.Glu23Lys | |
| ENST00000695744.1:c.67G>A | ENSP00000512137.1:p.Glu23Lys | |
| ENST00000695745.1:c.-768-594G>A | ENSP00000512138.1:n.-768-594G>A | |
| ENST00000695746.1:c.67G>A | ENSP00000512139.1:p.Glu23Lys | |
| ENST00000695747.1:c.67G>A | ENSP00000512140.1:p.Glu23Lys | |
| ENST00000695748.1:c.67G>A | ENSP00000512141.1:p.Glu23Lys | |
| ENST00000374642.8:c.67G>A MANE Select | ENSP00000363773.3:p.Glu23Lys | |
| ENST00000374642.7:c.67G>A | ENSP00000363773.3:p.Glu23Lys | |
| ENST00000402322.1:c.67G>A | ENSP00000385564.1:p.Glu23Lys | |
| ENST00000438241.1:c.67G>A | ENSP00000416841.1:p.Glu23Lys | |
| NM_015991.2:c.67G>A , LRG_22t1:c.67G>A | NP_057075.1:p.Glu23Lys | |
| NM_001347465.1:c.67G>A | NP_001334394.1:p.Glu23Lys | |
| NM_001347466.1:c.67G>A | NP_001334395.1:p.Glu23Lys | |
| NM_015991.3:c.67G>A | NP_057075.1:p.Glu23Lys | |
| NM_015991.4:c.67G>A MANE Select | NP_057075.1:p.Glu23Lys | |
| NM_001347465.2:c.67G>A | NP_001334394.1:p.Glu23Lys | |
| NM_001347466.2:c.67G>A | NP_001334395.1:p.Glu23Lys |