Linked Data
ClinVar Variation Id:
4359
ClinVar RCV Id:
RCV000004607
dbSNP Id:
rs119475042
MyVariant Identifiers:
chr19:g.54123867G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123867G>C , CM000681.2:g.54123867G>C | GRCh38 |
| NC_000019.8:g.59319058G>C | NCBI36 |
| NG_009759.1:g.13457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.646G>C MANE Select | ENSP00000324122.4:p.Ala216Pro | |
| ENST00000321030.8:c.646G>C | ENSP00000324122.4:p.Ala216Pro | |
| ENST00000391755.1:c.646G>C | ENSP00000375635.1:p.Ala216Pro | |
| ENST00000419967.5:c.646G>C | ENSP00000405166.2:p.Ala216Pro | |
| ENST00000445124.5:c.646G>C | ENSP00000408980.1:p.Ala216Pro | |
| ENST00000445811.5:c.646G>C | ENSP00000395894.1:p.Ala216Pro | |
| ENST00000447810.5:c.646G>C | ENSP00000395089.1:p.Ala216Pro | |
| ENST00000466404.5:n.516G>C | ||
| ENST00000498612.1:n.429G>C | ||
| NM_015629.3:c.646G>C | NP_056444.3:p.Ala216Pro | |
| XM_006723137.2:c.646G>C | XP_006723200.1:p.Ala216Pro | |
| XR_935789.1:n.695G>C | ||
| XM_006723137.4:c.646G>C | XP_006723200.1:p.Ala216Pro | |
| XR_002958293.1:n.776G>C | ||
| XR_935789.3:n.707G>C | ||
| NM_015629.4:c.646G>C MANE Select | NP_056444.3:p.Ala216Pro |