Linked Data
ClinVar Variation Id:
98502
ClinVar RCV Id:
RCV000084793
dbSNP Id:
rs367543200
gnomAD v4:
17-50150001-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50150001C>T , CM000679.2:g.50150001C>T | GRCh38 |
| NC_000017.10:g.48227366C>T , CM000679.1:g.48227366C>T | GRCh37 |
| NC_000017.9:g.45582365C>T | NCBI36 |
| NG_034197.1:g.5517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612501.2:c.513G>A MANE Select | ENSP00000478767.1:p.Leu171= | |
| ENST00000612501.1:c.513G>A | ENSP00000478767.1:p.Leu171= | |
| NM_032595.4:c.513G>A | NP_115984.3:p.Leu171= | |
| XM_011525380.1:c.513G>A | XP_011523682.1:p.Leu171= | |
| XM_011525381.1:c.513G>A | XP_011523683.1:p.Leu171= | |
| XR_934576.1:n.1022G>A | ||
| XM_011525381.2:c.513G>A | XP_011523683.1:p.Leu171= | |
| XR_934576.2:n.1026G>A | ||
| NM_032595.5:c.513G>A MANE Select | NP_115984.3:p.Leu171= |