Linked Data
dbSNP Id:
rs781408687
ExAC:
17:39780391 G / T
gnomAD v2:
17-39780391-G-T
gnomAD v3:
17-41624139-G-T
gnomAD v4:
17-41624139-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624139G>T , CM000679.2:g.41624139G>T | GRCh38 |
| NC_000017.10:g.39780391G>T , CM000679.1:g.39780391G>T | GRCh37 |
| NC_000017.9:g.37033917G>T | NCBI36 |
| NG_008625.1:g.5492C>A | |
| NG_009090.2:g.167574C>A , LRG_401:g.167574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.371C>A MANE Select | ENSP00000308452.8:p.Ala124Asp | |
| ENST00000311208.12:c.371C>A | ENSP00000308452.8:p.Ala124Asp | |
| ENST00000463128.5:c.-245C>A | ENSP00000468672.1:n.-245C>A | |
| ENST00000491673.1:n.437C>A | ||
| ENST00000493253.5:n.158C>A | ||
| ENST00000540235.5:c.122C>A | ENSP00000441751.2:p.Ala41Asp | |
| ENST00000577817.3:c.326C>A | ENSP00000467418.1:p.Ala109Asp | |
| NM_000422.2:c.371C>A | NP_000413.1:p.Ala124Asp | |
| NM_000422.3:c.371C>A MANE Select | NP_000413.1:p.Ala124Asp |