Linked Data
dbSNP Id:
rs1316503803
gnomAD v2:
17-61564012-A-G
gnomAD v3:
17-63486651-A-G
gnomAD v4:
17-63486651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63486651A>G , CM000679.2:g.63486651A>G | GRCh38 |
| NC_000017.10:g.61564012A>G , CM000679.1:g.61564012A>G | GRCh37 |
| NC_000017.9:g.58917744A>G | NCBI36 |
| NG_011648.1:g.14579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2153A>G MANE Select | ENSP00000290866.4:p.Lys718Arg | |
| ENST00000290863.10:c.431A>G | ENSP00000290863.6:p.Lys144Arg | |
| ENST00000290866.9:c.2153A>G | ENSP00000290866.4:p.Lys718Arg | |
| ENST00000413513.7:c.431A>G | ENSP00000392247.3:p.Lys144Arg | |
| ENST00000428043.5:c.2153A>G | ENSP00000397593.2:p.Lys718Arg | |
| ENST00000577647.2:c.431A>G | ENSP00000464149.1:p.Lys144Arg | |
| ENST00000578839.5:c.*223A>G | ENSP00000462110.2:n.*223A>G | |
| ENST00000579204.1:c.334A>G | ENSP00000464629.1:n.334A>G | |
| ENST00000579314.5:c.431A>G | ENSP00000462599.1:p.Lys144Arg | |
| ENST00000579726.5:c.715A>G | ||
| ENST00000582005.5:c.*73A>G | ENSP00000462002.1:n.*73A>G | |
| NM_000789.3:c.2153A>G | NP_000780.1:p.Lys718Arg | |
| NM_001178057.1:c.431A>G | NP_001171528.1:p.Lys144Arg | |
| NM_152830.2:c.431A>G | NP_690043.1:p.Lys144Arg | |
| XM_005257110.1:c.1604A>G | XP_005257167.1:p.Lys535Arg | |
| XM_006721737.2:c.491A>G | XP_006721800.2:p.Lys164Arg | |
| XM_006721737.3:c.491A>G | XP_006721800.2:p.Lys164Arg | |
| NM_000789.4:c.2153A>G MANE Select | NP_000780.1:p.Lys718Arg | |
| NM_001178057.2:c.431A>G | NP_001171528.1:p.Lys144Arg | |
| NM_152830.3:c.431A>G | NP_690043.1:p.Lys144Arg | |
| NM_001382700.1:c.1586A>G | NP_001369629.1:p.Lys529Arg | |
| NM_001382701.1:c.1301A>G | NP_001369630.1:p.Lys434Arg | |
| NM_001382702.1:c.83A>G | NP_001369631.1:p.Lys28Arg | |
| NR_168483.1:n.453A>G |