Linked Data
ClinVar Variation Id:
384359
dbSNP Id:
rs761583890
ExAC:
19:17954587 G / A
gnomAD v2:
19-17954587-G-A
gnomAD v3:
19-17843778-G-A
gnomAD v4:
19-17843778-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843778G>A , CM000681.2:g.17843778G>A | GRCh38 |
| NC_000019.9:g.17954587G>A , CM000681.1:g.17954587G>A | GRCh37 |
| NC_000019.8:g.17815587G>A | NCBI36 |
| NG_007273.1:g.9214C>T , LRG_77:g.9214C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.307C>T | ENSP00000513006.1:p.Arg103Cys | |
| ENST00000458235.7:c.307C>T MANE Select | ENSP00000391676.1:p.Arg103Cys | |
| ENST00000458235.5:c.307C>T | ENSP00000391676.1:p.Arg103Cys | |
| ENST00000526008.5:n.407C>T | ||
| ENST00000527031.5:n.397C>T | ||
| ENST00000527670.5:c.307C>T | ENSP00000432511.1:p.Arg103Cys | |
| ENST00000528293.1:n.324-287C>T | ||
| ENST00000534444.1:c.307C>T | ENSP00000436421.1:p.Arg103Cys | |
| NM_000215.3:c.307C>T , LRG_77t1:c.307C>T | NP_000206.2:p.Arg103Cys | |
| XM_005259896.2:c.436C>T | XP_005259953.1:p.Arg146Cys | |
| XM_006722745.2:c.307C>T | XP_006722808.1:p.Arg103Cys | |
| XM_011527990.1:c.436C>T | XP_011526292.1:p.Arg146Cys | |
| XM_011527991.1:c.436C>T | XP_011526293.1:p.Arg146Cys | |
| XR_430137.2:n.446C>T | ||
| XM_005259896.3:c.436C>T | XP_005259953.1:p.Arg146Cys | |
| XM_011527991.2:c.436C>T | XP_011526293.1:p.Arg146Cys | |
| NM_000215.4:c.307C>T MANE Select | NP_000206.2:p.Arg103Cys |