Linked Data
ClinVar Variation Id:
2637317
ClinVar RCV Id:
RCV004536761
dbSNP Id:
rs2067636406
gnomAD v3:
X-154353311-G-A
gnomAD v4:
X-154353311-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353311G>A , CM000685.2:g.154353311G>A | GRCh38 |
| NC_000023.10:g.153581679G>A , CM000685.1:g.153581679G>A | GRCh37 |
| NC_000023.9:g.153234873G>A | NCBI36 |
| NG_011506.1:g.26328C>T | |
| NG_011506.2:g.26328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.5983C>T | ENSP00000353467.4:p.Arg1995Cys | |
| ENST00000369850.10:c.6007C>T MANE Select | ENSP00000358866.3:p.Arg2003Cys | |
| ENST00000369856.8:c.5926C>T | ENSP00000358872.4:p.Arg1976Cys | |
| ENST00000422373.6:c.3161-636C>T | ENSP00000416926.2:n.3161-636C>T | |
| ENST00000610817.5:c.6064C>T | ENSP00000480593.2:n.6064C>T | |
| ENST00000673639.2:c.280-4621C>T | ||
| ENST00000676696.1:c.6286C>T | ENSP00000503392.1:n.6286C>T | |
| ENST00000678304.1:n.1186C>T | ||
| ENST00000344736.8:c.5887C>T | ENSP00000358863.3:p.Arg1963Cys | |
| ENST00000360319.8:c.5983C>T | ENSP00000353467.4:p.Arg1995Cys | |
| ENST00000369850.7:c.6007C>T | ENSP00000358866.3:p.Arg2003Cys | |
| ENST00000369856.7:c.5926C>T | ENSP00000358872.4:p.Arg1976Cys | |
| ENST00000415241.1:c.192C>T | ||
| ENST00000420627.5:c.5963C>T | ENSP00000408921.1:n.5963C>T | |
| ENST00000422373.5:c.5983C>T | ENSP00000416926.1:p.Arg1995Cys | |
| ENST00000438732.2:c.681C>T | ||
| ENST00000466325.1:n.146C>T | ||
| ENST00000490936.5:n.1996C>T | ||
| ENST00000610817.4:c.5844+82C>T | ENSP00000480593.1:n.5844+82C>T | |
| NM_001110556.1:c.6007C>T | NP_001104026.1:p.Arg2003Cys | |
| NM_001456.3:c.5983C>T | NP_001447.2:p.Arg1995Cys | |
| XM_011531127.1:c.5911C>T | XP_011529429.1:p.Arg1971Cys | |
| XM_011531128.1:c.5887C>T | XP_011529430.1:p.Arg1963Cys | |
| XM_011531129.1:c.5833C>T | XP_011529431.1:p.Arg1945Cys | |
| XM_011531130.1:c.5809C>T | XP_011529432.1:p.Arg1937Cys | |
| XM_011531131.1:c.5806C>T | XP_011529433.1:p.Arg1936Cys | |
| NM_001110556.2:c.6007C>T MANE Select | NP_001104026.1:p.Arg2003Cys | |
| NM_001456.4:c.5983C>T | NP_001447.2:p.Arg1995Cys |