Linked Data
dbSNP Id:
rs1410936135
gnomAD v2:
17-39780408-G-T
gnomAD v3:
17-41624156-G-T
gnomAD v4:
17-41624156-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624156G>T , CM000679.2:g.41624156G>T | GRCh38 |
| NC_000017.10:g.39780408G>T , CM000679.1:g.39780408G>T | GRCh37 |
| NC_000017.9:g.37033934G>T | NCBI36 |
| NG_008625.1:g.5475C>A | |
| NG_009090.2:g.167557C>A , LRG_401:g.167557C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.354C>A MANE Select | ENSP00000308452.8:p.Asp118Glu | |
| ENST00000311208.12:c.354C>A | ENSP00000308452.8:p.Asp118Glu | |
| ENST00000463128.5:c.-262C>A | ENSP00000468672.1:n.-262C>A | |
| ENST00000491673.1:n.420C>A | ||
| ENST00000493253.5:n.141C>A | ||
| ENST00000540235.5:c.105C>A | ENSP00000441751.2:p.Asp35Glu | |
| ENST00000577817.3:c.309C>A | ENSP00000467418.1:p.Asp103Glu | |
| NM_000422.2:c.354C>A | NP_000413.1:p.Asp118Glu | |
| NM_000422.3:c.354C>A MANE Select | NP_000413.1:p.Asp118Glu |