Linked Data
ClinVar Variation Id:
2384290
ClinVar RCV Id:
RCV002674920
dbSNP Id:
rs1359140245
gnomAD v2:
4-73179413-G-A
gnomAD v3:
4-72313696-G-A
gnomAD v4:
4-72313696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313696G>A , CM000666.2:g.72313696G>A | GRCh38 |
| NC_000004.11:g.73179413G>A , CM000666.1:g.73179413G>A | GRCh37 |
| NC_000004.10:g.73398277G>A | NCBI36 |
| NG_046955.1:g.260104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1726C>T MANE Select | ENSP00000286657.4:p.Arg576Cys | |
| ENST00000286657.8:c.1726C>T | ENSP00000286657.4:p.Arg576Cys | |
| ENST00000622135.1:c.1726C>T | ENSP00000480055.1:p.Arg576Cys | |
| NM_014243.2:c.1726C>T | NP_055058.2:p.Arg576Cys | |
| XM_011532421.1:c.1669C>T | XP_011530723.1:p.Arg557Cys | |
| XM_011532422.1:c.1642C>T | XP_011530724.1:p.Arg548Cys | |
| XM_011532423.1:c.1084C>T | XP_011530725.1:p.Arg362Cys | |
| XM_011532424.1:c.994C>T | XP_011530726.1:p.Arg332Cys | |
| XM_011532421.2:c.1669C>T | XP_011530723.1:p.Arg557Cys | |
| XM_011532422.3:c.1642C>T | XP_011530724.1:p.Arg548Cys | |
| NM_014243.3:c.1726C>T MANE Select | NP_055058.2:p.Arg576Cys |