Linked Data
ClinVar Variation Id:
1117211
ClinVar RCV Id:
RCV001445873
dbSNP Id:
rs2111721591
gnomAD v4:
5-55233182-G-A
MyVariant Identifiers:
chr5:g.54529010G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233182G>A , CM000667.2:g.55233182G>A | GRCh38 |
| NC_000005.9:g.54529010G>A , CM000667.1:g.54529010G>A | GRCh37 |
| NC_000005.8:g.54564767G>A | NCBI36 |
| NG_034201.1:g.5536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.342C>T MANE Select | ENSP00000282572.4:p.Ser114= | |
| ENST00000282572.4:c.342C>T | ENSP00000282572.4:p.Ser114= | |
| ENST00000501463.2:c.342C>T | ENSP00000422485.1:p.Ser114= | |
| NM_021147.4:c.342C>T | NP_066970.3:p.Ser114= | |
| NR_125346.1:n.536C>T | ||
| NR_125347.1:n.536C>T | ||
| NM_021147.5:c.342C>T MANE Select | NP_066970.3:p.Ser114= | |
| NR_125346.2:n.427C>T | ||
| NR_125347.2:n.427C>T |