Linked Data
dbSNP Id:
rs563123708
ExAC:
22:50662808 G / A
gnomAD v2:
22-50662808-G-A
gnomAD v3:
22-50224379-G-A
gnomAD v4:
22-50224379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224379G>A , CM000684.2:g.50224379G>A | GRCh38 |
| NC_000022.10:g.50662808G>A , CM000684.1:g.50662808G>A | GRCh37 |
| NC_000022.9:g.49004935G>A | NCBI36 |
| NG_032160.1:g.25593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2107C>T MANE Select | ENSP00000248846.5:p.Arg703Cys | |
| ENST00000248846.9:c.2107C>T | ENSP00000248846.5:p.Arg703Cys | |
| ENST00000439308.6:c.2107C>T | ENSP00000397387.2:p.Arg703Cys | |
| ENST00000473946.1:n.416C>T | ||
| ENST00000489511.5:n.124C>T | ||
| ENST00000491449.5:n.414C>T | ||
| ENST00000498611.5:n.2640C>T | ||
| NM_020461.3:c.2107C>T | NP_065194.2:p.Arg703Cys | |
| XR_938347.1:n.2672C>T | ||
| XR_938348.1:n.2672C>T | ||
| XR_001755343.2:n.2676C>T | ||
| XR_001755344.2:n.2676C>T | ||
| XR_002958720.1:n.2676C>T | ||
| XR_938347.2:n.2676C>T | ||
| NM_020461.4:c.2107C>T MANE Select | NP_065194.3:p.Arg703Cys |