Linked Data
ClinVar Variation Id:
24718
dbSNP Id:
rs104886270
ExAC:
X:107929290 C / T
gnomAD v2:
X-107929290-C-T
gnomAD v3:
X-108686060-C-T
gnomAD v4:
X-108686060-C-T
PubMed:
PMID:8651296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108686060C>T , CM000685.2:g.108686060C>T | GRCh38 |
| NC_000023.10:g.107929290C>T , CM000685.1:g.107929290C>T | GRCh37 |
| NC_000023.9:g.107815946C>T | NCBI36 |
| NG_011977.1:g.251137C>T | |
| NG_011977.2:g.251137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4246C>T MANE Select | ENSP00000331902.7:p.Arg1416Cys | |
| ENST00000361603.7:c.4228C>T | ENSP00000354505.2:p.Arg1410Cys | |
| ENST00000510690.2:n.740C>T | ||
| ENST00000328300.10:c.4246C>T | ENSP00000331902.6:p.Arg1416Cys | |
| ENST00000361603.6:c.4228C>T | ENSP00000354505.2:p.Arg1410Cys | |
| ENST00000489230.1:n.649C>T | ||
| ENST00000515658.1:c.42C>T | ||
| NM_000495.4:c.4228C>T | NP_000486.1:p.Arg1410Cys | |
| NM_033380.2:c.4246C>T | NP_203699.1:p.Arg1416Cys | |
| XM_005262070.2:c.4237C>T | XP_005262127.1:p.Arg1413Cys | |
| XM_006724616.2:c.4246C>T | XP_006724679.1:p.Arg1416Cys | |
| XM_011530849.1:c.3922C>T | XP_011529151.1:p.Arg1308Cys | |
| XM_011530851.1:c.1819C>T | XP_011529153.1:p.Arg607Cys | |
| XM_011530849.2:c.4261C>T | XP_011529151.2:p.Arg1421Cys | |
| XM_017029259.2:c.4252C>T | XP_016884748.1:p.Arg1418Cys | |
| XM_017029260.1:c.4243C>T | XP_016884749.1:p.Arg1415Cys | |
| XM_017029263.2:c.2581C>T | XP_016884752.1:p.Arg861Cys | |
| NM_000495.5:c.4228C>T | NP_000486.1:p.Arg1410Cys | |
| NM_033380.3:c.4246C>T MANE Select | NP_203699.1:p.Arg1416Cys |