Linked Data
ClinVar Variation Id:
411596
ClinVar RCV Id:
RCV000464206
dbSNP Id:
rs1060503388
gnomAD v2:
5-54527481-G-A
gnomAD v4:
5-55231653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231653G>A , CM000667.2:g.55231653G>A | GRCh38 |
| NC_000005.9:g.54527481G>A , CM000667.1:g.54527481G>A | GRCh37 |
| NC_000005.8:g.54563238G>A | NCBI36 |
| NG_034201.1:g.7065C>T | |
| NG_051620.1:g.663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.775C>T MANE Select | ENSP00000282572.4:p.Gln259Ter | |
| ENST00000282572.4:c.775C>T | ENSP00000282572.4:p.Gln259Ter | |
| ENST00000501463.2:c.*755C>T | ENSP00000422485.1:n.*755C>T | |
| NM_021147.4:c.775C>T | NP_066970.3:p.Gln259Ter | |
| NR_125346.1:n.1345C>T | ||
| NR_125347.1:n.974C>T | ||
| NR_125348.1:n.839C>T | ||
| NM_021147.5:c.775C>T MANE Select | NP_066970.3:p.Gln259Ter | |
| NR_125346.2:n.1236C>T | ||
| NR_125347.2:n.865C>T |