Linked Data
dbSNP Id:
rs775177584
ExAC:
22:27003925 C / T
gnomAD v2:
22-27003925-C-T
gnomAD v4:
22-26607961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607961C>T , CM000684.2:g.26607961C>T | GRCh38 |
| NC_000022.10:g.27003925C>T , CM000684.1:g.27003925C>T | GRCh37 |
| NC_000022.9:g.25333925C>T | NCBI36 |
| NG_009826.1:g.15067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.172G>A | ||
| ENST00000647684.1:c.360G>A MANE Select | ENSP00000497249.1:p.Glu120= | |
| ENST00000215939.2:c.360G>A | ENSP00000215939.2:p.Glu120= | |
| NM_001887.3:c.360G>A | NP_001878.1:p.Glu120= | |
| XM_011529899.1:c.360G>A | XP_011528201.1:p.Glu120= | |
| NM_001887.4:c.360G>A MANE Select | NP_001878.1:p.Glu120= | |
| XM_011529899.3:c.360G>A | XP_011528201.1:p.Glu120= |