Linked Data
ClinVar Variation Id:
627299
dbSNP Id:
rs757116551
gnomAD v3:
17-44372385-T-A
gnomAD v4:
17-44372385-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372385T>A , CM000679.2:g.44372385T>A | GRCh38 |
| NC_000017.10:g.42449753T>A , CM000679.1:g.42449753T>A | GRCh37 |
| NC_000017.9:g.39805279T>A | NCBI36 |
| NG_008331.1:g.22121A>T , LRG_479:g.22121A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3099A>T MANE Select | ENSP00000262407.5:p.Glu1033Asp | |
| ENST00000648408.1:c.2413A>T | ||
| ENST00000262407.5:c.3099A>T | ENSP00000262407.5:p.Glu1033Asp | |
| ENST00000587295.5:c.292A>T | ||
| ENST00000588098.1:c.76A>T | ||
| NM_000419.3:c.3099A>T , LRG_479t1:c.3099A>T | NP_000410.2:p.Glu1033Asp | |
| XM_011524749.1:c.2997A>T | XP_011523051.1:p.Glu999Asp | |
| XM_011524750.1:c.2982A>T | XP_011523052.1:p.Glu994Asp | |
| NM_000419.4:c.3099A>T | NP_000410.2:p.Glu1033Asp | |
| NM_000419.5:c.3099A>T MANE Select | NP_000410.2:p.Glu1033Asp |