Linked Data
ClinVar Variation Id:
190928
dbSNP Id:
rs151113230
gnomAD v3:
20-33438973-C-T
gnomAD v4:
20-33438973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438973C>T , CM000682.2:g.33438973C>T | GRCh38 |
| NC_000020.10:g.32026779C>T , CM000682.1:g.32026779C>T | GRCh37 |
| NC_000020.9:g.31490440C>T | NCBI36 |
| NG_011622.1:g.9920G>A , LRG_332:g.9920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.364G>A MANE Select | ENSP00000217381.2:p.Ala122Thr | |
| ENST00000217381.2:c.364G>A | ENSP00000217381.2:p.Ala122Thr | |
| NM_003098.2:c.364G>A , LRG_332t1:c.364G>A | NP_003089.1:p.Ala122Thr | |
| XM_005260517.1:c.364G>A | XP_005260574.1:p.Ala122Thr | |
| XM_011529007.1:c.364G>A | XP_011527309.1:p.Ala122Thr | |
| XM_011529008.1:c.364G>A | XP_011527310.1:p.Ala122Thr | |
| XR_936612.1:n.597G>A | ||
| XM_024451971.1:c.37G>A | XP_024307739.1:p.Ala13Thr | |
| NM_003098.3:c.364G>A MANE Select | NP_003089.1:p.Ala122Thr |