Linked Data
dbSNP Id:
rs772839262
ExAC:
1:22456318 C / T
gnomAD v2:
1-22456318-C-T
gnomAD v4:
1-22129825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22129825C>T , CM000663.2:g.22129825C>T | GRCh38 |
| NC_000001.10:g.22456318C>T , CM000663.1:g.22456318C>T | GRCh37 |
| NC_000001.9:g.22328905C>T | NCBI36 |
| NG_008974.1:g.18202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.104G>A MANE Select | ENSP00000290167.5:p.Gly35Glu | |
| ENST00000290167.10:c.104G>A | ENSP00000290167.5:p.Gly35Glu | |
| ENST00000415567.1:c.27G>A | ||
| ENST00000441048.1:c.-62G>A | ENSP00000388925.1:n.-62G>A | |
| NM_030761.4:c.104G>A | NP_110388.2:p.Gly35Glu | |
| XM_011541597.1:c.170G>A | XP_011539899.1:p.Gly57Glu | |
| XM_011541598.1:c.-62G>A | XP_011539900.1:n.-62G>A | |
| XM_011541599.1:c.170G>A | XP_011539901.1:p.Gly57Glu | |
| XM_011541597.2:c.170G>A | XP_011539899.1:p.Gly57Glu | |
| XM_011541598.2:c.-62G>A | XP_011539900.1:n.-62G>A | |
| NM_030761.5:c.104G>A MANE Select | NP_110388.2:p.Gly35Glu |