Linked Data
ClinVar Variation Id:
570940
ClinVar RCV Id:
RCV000691939
dbSNP Id:
rs1489774896
gnomAD v2:
5-54529186-C-T
gnomAD v3:
5-55233358-C-T
gnomAD v4:
5-55233358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233358C>T , CM000667.2:g.55233358C>T | GRCh38 |
| NC_000005.9:g.54529186C>T , CM000667.1:g.54529186C>T | GRCh37 |
| NC_000005.8:g.54564943C>T | NCBI36 |
| NG_034201.1:g.5360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.166G>A MANE Select | ENSP00000282572.4:p.Gly56Ser | |
| ENST00000282572.4:c.166G>A | ENSP00000282572.4:p.Gly56Ser | |
| ENST00000501463.2:c.166G>A | ENSP00000422485.1:p.Gly56Ser | |
| NM_021147.4:c.166G>A | NP_066970.3:p.Gly56Ser | |
| NR_125346.1:n.360G>A | ||
| NR_125347.1:n.360G>A | ||
| NM_021147.5:c.166G>A MANE Select | NP_066970.3:p.Gly56Ser | |
| NR_125346.2:n.251G>A | ||
| NR_125347.2:n.251G>A |