Linked Data
ClinVar Variation Id:
950777
ClinVar RCV Id:
RCV001222562
dbSNP Id:
rs748700550
ExAC:
5:54527448 G / T
gnomAD v2:
5-54527448-G-T
gnomAD v4:
5-55231620-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231620G>T , CM000667.2:g.55231620G>T | GRCh38 |
| NC_000005.9:g.54527448G>T , CM000667.1:g.54527448G>T | GRCh37 |
| NC_000005.8:g.54563205G>T | NCBI36 |
| NG_034201.1:g.7098C>A | |
| NG_051620.1:g.696C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.808C>A MANE Select | ENSP00000282572.4:p.Leu270Met | |
| ENST00000282572.4:c.808C>A | ENSP00000282572.4:p.Leu270Met | |
| ENST00000501463.2:c.*788C>A | ENSP00000422485.1:n.*788C>A | |
| NM_021147.4:c.808C>A | NP_066970.3:p.Leu270Met | |
| NR_125346.1:n.1378C>A | ||
| NR_125347.1:n.1007C>A | ||
| NR_125348.1:n.872C>A | ||
| NM_021147.5:c.808C>A MANE Select | NP_066970.3:p.Leu270Met | |
| NR_125346.2:n.1269C>A | ||
| NR_125347.2:n.898C>A |