Linked Data
ClinVar Variation Id:
412591
dbSNP Id:
rs534491843
gnomAD v2:
20-42788848-G-A
gnomAD v3:
20-44160208-G-A
gnomAD v4:
20-44160208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160208G>A , CM000682.2:g.44160208G>A | GRCh38 |
| NC_000020.10:g.42788848G>A , CM000682.1:g.42788848G>A | GRCh37 |
| NC_000020.9:g.42222262G>A | NCBI36 |
| NG_031867.1:g.32371C>T , LRG_394:g.32371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.579C>T MANE Select | ENSP00000362071.3:p.Pro193= | |
| ENST00000372980.3:c.579C>T | ENSP00000362071.3:p.Pro193= | |
| NM_020433.4:c.579C>T , LRG_394t1:c.579C>T | NP_065166.2:p.Pro193= | |
| XM_006723832.2:c.579C>T | XP_006723895.1:p.Pro193= | |
| NM_020433.5:c.579C>T MANE Select | NP_065166.2:p.Pro193= |