Linked Data
ClinVar Variation Id:
2826130
ClinVar RCV Id:
RCV003651070
gnomAD v4:
5-55233239-T-C
MyVariant Identifiers:
chr5:g.54529067T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233239T>C , CM000667.2:g.55233239T>C | GRCh38 |
| NC_000005.9:g.54529067T>C , CM000667.1:g.54529067T>C | GRCh37 |
| NC_000005.8:g.54564824T>C | NCBI36 |
| NG_034201.1:g.5479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.285A>G MANE Select | ENSP00000282572.4:p.Leu95= | |
| ENST00000282572.4:c.285A>G | ENSP00000282572.4:p.Leu95= | |
| ENST00000501463.2:c.285A>G | ENSP00000422485.1:p.Leu95= | |
| NM_021147.4:c.285A>G | NP_066970.3:p.Leu95= | |
| NR_125346.1:n.479A>G | ||
| NR_125347.1:n.479A>G | ||
| NM_021147.5:c.285A>G MANE Select | NP_066970.3:p.Leu95= | |
| NR_125346.2:n.370A>G | ||
| NR_125347.2:n.370A>G |