Linked Data
ClinVar Variation Id:
1755828
ClinVar RCV Id:
RCV002362143
dbSNP Id:
rs2072210824
gnomAD v4:
20-44118561-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118561T>G , CM000682.2:g.44118561T>G | GRCh38 |
| NC_000020.10:g.42747201T>G , CM000682.1:g.42747201T>G | GRCh37 |
| NC_000020.9:g.42180615T>G | NCBI36 |
| NG_031867.1:g.74018A>C , LRG_394:g.74018A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1232A>C MANE Select | ENSP00000362071.3:p.Glu411Ala | |
| ENST00000372980.3:c.1232A>C | ENSP00000362071.3:p.Glu411Ala | |
| NM_020433.4:c.1232A>C , LRG_394t1:c.1232A>C | NP_065166.2:p.Glu411Ala | |
| XM_006723832.2:c.1232A>C | XP_006723895.1:p.Glu411Ala | |
| NM_020433.5:c.1232A>C MANE Select | NP_065166.2:p.Glu411Ala |