Linked Data
ClinVar Variation Id:
846075
ClinVar RCV Id:
RCV001049282
dbSNP Id:
rs369830529
gnomAD v2:
5-54529144-C-T
gnomAD v3:
5-55233316-C-T
gnomAD v4:
5-55233316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233316C>T , CM000667.2:g.55233316C>T | GRCh38 |
| NC_000005.9:g.54529144C>T , CM000667.1:g.54529144C>T | GRCh37 |
| NC_000005.8:g.54564901C>T | NCBI36 |
| NG_034201.1:g.5402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.208G>A MANE Select | ENSP00000282572.4:p.Gly70Ser | |
| ENST00000282572.4:c.208G>A | ENSP00000282572.4:p.Gly70Ser | |
| ENST00000501463.2:c.208G>A | ENSP00000422485.1:p.Gly70Ser | |
| NM_021147.4:c.208G>A | NP_066970.3:p.Gly70Ser | |
| NR_125346.1:n.402G>A | ||
| NR_125347.1:n.402G>A | ||
| NM_021147.5:c.208G>A MANE Select | NP_066970.3:p.Gly70Ser | |
| NR_125346.2:n.293G>A | ||
| NR_125347.2:n.293G>A |