Linked Data
dbSNP Id:
rs746248932
ExAC:
1:22456299 C / A
gnomAD v2:
1-22456299-C-A
gnomAD v4:
1-22129806-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22129806C>A , CM000663.2:g.22129806C>A | GRCh38 |
| NC_000001.10:g.22456299C>A , CM000663.1:g.22456299C>A | GRCh37 |
| NC_000001.9:g.22328886C>A | NCBI36 |
| NG_008974.1:g.18221G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.123G>T MANE Select | ENSP00000290167.5:p.Glu41Asp | |
| ENST00000290167.10:c.123G>T | ENSP00000290167.5:p.Glu41Asp | |
| ENST00000415567.1:c.46G>T | ||
| ENST00000441048.1:c.-43G>T | ENSP00000388925.1:n.-43G>T | |
| NM_030761.4:c.123G>T | NP_110388.2:p.Glu41Asp | |
| XM_011541597.1:c.189G>T | XP_011539899.1:p.Glu63Asp | |
| XM_011541598.1:c.-43G>T | XP_011539900.1:n.-43G>T | |
| XM_011541599.1:c.189G>T | XP_011539901.1:p.Glu63Asp | |
| XM_011541597.2:c.189G>T | XP_011539899.1:p.Glu63Asp | |
| XM_011541598.2:c.-43G>T | XP_011539900.1:n.-43G>T | |
| NM_030761.5:c.123G>T MANE Select | NP_110388.2:p.Glu41Asp |