Linked Data
dbSNP Id:
rs1312594566
gnomAD v2:
20-42744283-A-G
gnomAD v3:
20-44115643-A-G
gnomAD v4:
20-44115643-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115643A>G , CM000682.2:g.44115643A>G | GRCh38 |
| NC_000020.10:g.42744283A>G , CM000682.1:g.42744283A>G | GRCh37 |
| NC_000020.9:g.42177697A>G | NCBI36 |
| NG_031867.1:g.76936T>C , LRG_394:g.76936T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.2010+22T>C MANE Select | ENSP00000362071.3:n.2010+22T>C | |
| ENST00000372980.3:c.2010+22T>C | ENSP00000362071.3:n.2010+22T>C | |
| NM_020433.4:c.2010+22T>C , LRG_394t1:c.2010+22T>C | NP_065166.2:n.2010+22T>C | |
| XM_006723832.2:c.2010+22T>C | XP_006723895.1:n.2010+22T>C | |
| NM_020433.5:c.2010+22T>C MANE Select | NP_065166.2:n.2010+22T>C |