Linked Data
ClinVar Variation Id:
1419535
dbSNP Id:
rs139371264
ExAC:
13:40268841 A / G
gnomAD v2:
13-40268841-A-G
gnomAD v3:
13-39694704-A-G
gnomAD v4:
13-39694704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39694704A>G , CM000675.2:g.39694704A>G | GRCh38 |
| NC_000013.10:g.40268841A>G , CM000675.1:g.40268841A>G | GRCh37 |
| NC_000013.9:g.39166841A>G | NCBI36 |
| NG_028352.1:g.44078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1145A>G MANE Select | ENSP00000397441.2:p.Lys382Arg | |
| ENST00000356576.8:c.*982A>G | ENSP00000348983.4:n.*982A>G | |
| ENST00000416691.5:c.1145A>G | ENSP00000403733.1:p.Lys382Arg | |
| ENST00000455146.7:c.1145A>G | ENSP00000397441.2:p.Lys382Arg | |
| NM_001145079.1:c.1145A>G | NP_001138551.1:p.Lys382Arg | |
| NM_020751.2:c.1145A>G | NP_065802.1:p.Lys382Arg | |
| NR_026745.1:n.1310A>G | ||
| XM_011535168.1:c.1145A>G | XP_011533470.1:p.Lys382Arg | |
| XM_011535169.1:c.989A>G | XP_011533471.1:p.Lys330Arg | |
| XM_011535170.1:c.989A>G | XP_011533472.1:p.Lys330Arg | |
| NM_020751.3:c.1145A>G MANE Select | NP_065802.1:p.Lys382Arg | |
| NM_001145079.2:c.1145A>G | NP_001138551.1:p.Lys382Arg |