Linked Data
ClinVar Variation Id:
98505
ClinVar RCV Id:
RCV000084796
dbSNP Id:
rs367543203
ExAC:
17:48227459 T / G
gnomAD v2:
17-48227459-T-G
gnomAD v3:
17-50150098-T-G
gnomAD v4:
17-50150098-T-G
MyVariant Identifiers:
chr17:g.48227459T>G (hg19)
chr17:g.48227459_48227462delinsGGCG (hg19)
chr17:g.50150098T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50150098T>G , CM000679.2:g.50150098T>G | GRCh38 |
| NC_000017.10:g.48227459T>G , CM000679.1:g.48227459T>G | GRCh37 |
| NC_000017.9:g.45582458T>G | NCBI36 |
| NG_034197.1:g.5420A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612501.2:c.416A>C MANE Select | ENSP00000478767.1:p.His139Pro | |
| ENST00000612501.1:c.416A>C | ENSP00000478767.1:p.His139Pro | |
| NM_032595.4:c.416A>C | NP_115984.3:p.His139Pro | |
| XM_011525380.1:c.416A>C | XP_011523682.1:p.His139Pro | |
| XM_011525381.1:c.416A>C | XP_011523683.1:p.His139Pro | |
| XR_934576.1:n.925A>C | ||
| XM_011525381.2:c.416A>C | XP_011523683.1:p.His139Pro | |
| XR_934576.2:n.929A>C | ||
| NM_032595.5:c.416A>C MANE Select | NP_115984.3:p.His139Pro |