Linked Data
ClinVar Variation Id:
14586
dbSNP Id:
rs28928896
gnomAD v4:
17-41624236-T-C
PubMed:
PMID:7539673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624236T>C , CM000679.2:g.41624236T>C | GRCh38 |
| NC_000017.10:g.39780488T>C , CM000679.1:g.39780488T>C | GRCh37 |
| NC_000017.9:g.37034014T>C | NCBI36 |
| NG_008625.1:g.5395A>G | |
| NG_009090.2:g.167477A>G , LRG_401:g.167477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.274A>G MANE Select | ENSP00000308452.8:p.Asn92Asp | |
| ENST00000311208.12:c.274A>G | ENSP00000308452.8:p.Asn92Asp | |
| ENST00000463128.5:c.-312-30A>G | ENSP00000468672.1:n.-312-30A>G | |
| ENST00000491673.1:n.340A>G | ||
| ENST00000493253.5:n.61A>G | ||
| ENST00000540235.5:c.69A>G | ENSP00000441751.2:p.Ser23= | |
| ENST00000577817.3:c.229A>G | ENSP00000467418.1:p.Asn77Asp | |
| NM_000422.2:c.274A>G | NP_000413.1:p.Asn92Asp | |
| NM_000422.3:c.274A>G MANE Select | NP_000413.1:p.Asn92Asp |