Linked Data
ClinVar Variation Id:
212516
dbSNP Id:
rs201721812
ExAC:
22:50656430 G / A
gnomAD v2:
22-50656430-G-A
gnomAD v3:
22-50218001-G-A
gnomAD v4:
22-50218001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50218001G>A , CM000684.2:g.50218001G>A | GRCh38 |
| NC_000022.10:g.50656430G>A , CM000684.1:g.50656430G>A | GRCh37 |
| NC_000022.9:g.48998557G>A | NCBI36 |
| NG_032160.1:g.31971C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.5285C>T MANE Select | ENSP00000248846.5:p.Pro1762Leu | |
| ENST00000248846.9:c.5285C>T | ENSP00000248846.5:p.Pro1762Leu | |
| ENST00000425018.1:c.1292C>T | ENSP00000405979.1:p.Pro431Leu | |
| ENST00000439308.6:c.*862C>T | ENSP00000397387.2:n.*862C>T | |
| ENST00000491449.5:n.3827C>T | ||
| ENST00000498611.5:n.5052C>T | ||
| NM_020461.3:c.5285C>T | NP_065194.2:p.Pro1762Leu | |
| XR_938347.1:n.5843C>T | ||
| XR_938348.1:n.4297C>T | ||
| XR_001755343.2:n.5913C>T | ||
| XR_001755344.2:n.5906C>T | ||
| XR_002958720.1:n.4230C>T | ||
| XR_938347.2:n.5847C>T | ||
| NM_020461.4:c.5285C>T MANE Select | NP_065194.3:p.Pro1762Leu |