Linked Data
dbSNP Id:
rs224333
gnomAD v3:
20-35436182-A-G
gnomAD v4:
20-35436182-A-G
MyVariant Identifiers:
chr20:g.35436182A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35436182A>G , CM000682.2:g.35436182A>G | GRCh38 |
| NG_008076.2:g.7038T>C | |
| NG_008076.3:g.23565T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.631+1116T>C MANE Select | ENSP00000363489.3:n.631+1116T>C | |
| ENST00000374369.7:c.631+1116T>C | ENSP00000363489.3:n.631+1116T>C | |
| ENST00000374372.1:c.631+1116T>C | ENSP00000363492.1:n.631+1116T>C | |
| NM_000557.4:c.631+1116T>C | NP_000548.2:n.631+1116T>C | |
| XM_011529075.1:c.631+1116T>C | XP_011527377.1:n.631+1116T>C | |
| XM_011529076.1:c.631+1116T>C | XP_011527378.1:n.631+1116T>C | |
| NM_001319138.1:c.631+1116T>C | NP_001306067.1:n.631+1116T>C | |
| NM_000557.5:c.631+1116T>C MANE Select | NP_000548.2:n.631+1116T>C | |
| NM_001319138.2:c.631+1116T>C | NP_001306067.1:n.631+1116T>C |