Linked Data
dbSNP Id:
rs11552699
ExAC:
20:32880185 T / G
gnomAD v2:
20-32880185-T-G
gnomAD v4:
20-34292379-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34292379T>G , CM000682.2:g.34292379T>G | GRCh38 |
| NC_000020.10:g.32880185T>G , CM000682.1:g.32880185T>G | GRCh37 |
| NC_000020.9:g.32343846T>G | NCBI36 |
| NG_012630.1:g.24424A>C | |
| NG_012630.2:g.24424A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217426.7:c.424A>C MANE Select | ENSP00000217426.2:p.Lys142Gln | |
| ENST00000217426.6:c.424A>C | ENSP00000217426.2:p.Lys142Gln | |
| ENST00000468908.1:n.587A>C | ||
| ENST00000480653.5:n.471A>C | ||
| ENST00000538132.1:c.340A>C | ENSP00000442820.1:p.Lys114Gln | |
| NM_000687.2:c.424A>C | NP_000678.1:p.Lys142Gln | |
| NM_001161766.1:c.340A>C | NP_001155238.1:p.Lys114Gln | |
| XM_005260316.3:c.340A>C | XP_005260373.1:p.Lys114Gln | |
| XM_005260317.1:c.340A>C | XP_005260374.1:p.Lys114Gln | |
| XM_011528656.1:c.340A>C | XP_011526958.1:p.Lys114Gln | |
| XM_011528657.1:c.340A>C | XP_011526959.1:p.Lys114Gln | |
| XM_011528658.1:c.340A>C | XP_011526960.1:p.Lys114Gln | |
| XM_011528659.1:c.340A>C | XP_011526961.1:p.Lys114Gln | |
| XM_011528660.1:c.340A>C | XP_011526962.1:p.Lys114Gln | |
| NM_000687.3:c.424A>C | NP_000678.1:p.Lys142Gln | |
| NM_001322084.1:c.340A>C | NP_001309013.1:p.Lys114Gln | |
| NM_001322085.1:c.340A>C | NP_001309014.1:p.Lys114Gln | |
| NM_001322086.1:c.430A>C | NP_001309015.1:p.Lys144Gln | |
| NM_001362750.1:c.424A>C | NP_001349679.1:p.Lys142Gln | |
| XM_005260317.2:c.340A>C | XP_005260374.1:p.Lys114Gln | |
| XM_011528656.3:c.430A>C | XP_011526958.2:p.Lys144Gln | |
| XM_011528657.2:c.430A>C | XP_011526959.2:p.Lys144Gln | |
| XM_011528658.3:c.430A>C | XP_011526960.2:p.Lys144Gln | |
| XM_017027709.2:c.424A>C | XP_016883198.1:p.Lys142Gln | |
| XM_017027710.2:c.46A>C | XP_016883199.1:p.Lys16Gln | |
| NM_000687.4:c.424A>C MANE Select | NP_000678.1:p.Lys142Gln | |
| NM_001322084.2:c.340A>C | NP_001309013.1:p.Lys114Gln | |
| NM_001322085.2:c.340A>C | NP_001309014.1:p.Lys114Gln | |
| NM_001322086.2:c.430A>C | NP_001309015.1:p.Lys144Gln | |
| NM_001362750.2:c.424A>C | NP_001349679.1:p.Lys142Gln | |
| NM_001161766.2:c.340A>C | NP_001155238.1:p.Lys114Gln |