Linked Data
dbSNP Id:
rs781408687
ExAC:
17:39780391 G / A
gnomAD v2:
17-39780391-G-A
gnomAD v3:
17-41624139-G-A
gnomAD v4:
17-41624139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624139G>A , CM000679.2:g.41624139G>A | GRCh38 |
| NC_000017.10:g.39780391G>A , CM000679.1:g.39780391G>A | GRCh37 |
| NC_000017.9:g.37033917G>A | NCBI36 |
| NG_008625.1:g.5492C>T | |
| NG_009090.2:g.167574C>T , LRG_401:g.167574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.371C>T MANE Select | ENSP00000308452.8:p.Ala124Val | |
| ENST00000311208.12:c.371C>T | ENSP00000308452.8:p.Ala124Val | |
| ENST00000463128.5:c.-245C>T | ENSP00000468672.1:n.-245C>T | |
| ENST00000491673.1:n.437C>T | ||
| ENST00000493253.5:n.158C>T | ||
| ENST00000540235.5:c.122C>T | ENSP00000441751.2:p.Ala41Val | |
| ENST00000577817.3:c.326C>T | ENSP00000467418.1:p.Ala109Val | |
| NM_000422.2:c.371C>T | NP_000413.1:p.Ala124Val | |
| NM_000422.3:c.371C>T MANE Select | NP_000413.1:p.Ala124Val |