Linked Data
dbSNP Id:
rs1421175248
gnomAD v2:
17-39780506-C-T
gnomAD v3:
17-41624254-C-T
gnomAD v4:
17-41624254-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624254C>T , CM000679.2:g.41624254C>T | GRCh38 |
| NC_000017.10:g.39780506C>T , CM000679.1:g.39780506C>T | GRCh37 |
| NC_000017.9:g.37034032C>T | NCBI36 |
| NG_008625.1:g.5377G>A | |
| NG_009090.2:g.167459G>A , LRG_401:g.167459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.256G>A MANE Select | ENSP00000308452.8:p.Ala86Thr | |
| ENST00000311208.12:c.256G>A | ENSP00000308452.8:p.Ala86Thr | |
| ENST00000463128.5:c.-312-48G>A | ENSP00000468672.1:n.-312-48G>A | |
| ENST00000491673.1:n.322G>A | ||
| ENST00000493253.5:n.43G>A | ||
| ENST00000540235.5:c.51G>A | ENSP00000441751.2:p.Arg17= | |
| ENST00000577817.3:c.211G>A | ENSP00000467418.1:p.Ala71Thr | |
| NM_000422.2:c.256G>A | NP_000413.1:p.Ala86Thr | |
| NM_000422.3:c.256G>A MANE Select | NP_000413.1:p.Ala86Thr |