Linked Data
ClinVar Variation Id:
1333704
ClinVar RCV Id:
RCV001808920
dbSNP Id:
rs104886213
PubMed:
PMID:10094548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108626284C>T , CM000685.2:g.108626284C>T | GRCh38 |
| NC_000023.10:g.107869514C>T , CM000685.1:g.107869514C>T | GRCh37 |
| NC_000023.9:g.107756170C>T | NCBI36 |
| NG_011977.1:g.191361C>T | |
| NG_011977.2:g.191361C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3181C>T MANE Select | ENSP00000331902.7:p.Gln1061Ter | |
| ENST00000361603.7:c.3181C>T | ENSP00000354505.2:p.Gln1061Ter | |
| ENST00000328300.10:c.3181C>T | ENSP00000331902.6:p.Gln1061Ter | |
| ENST00000361603.6:c.3181C>T | ENSP00000354505.2:p.Gln1061Ter | |
| ENST00000483338.1:n.2637C>T | ||
| ENST00000505728.1:c.414C>T | ||
| NM_000495.4:c.3181C>T | NP_000486.1:p.Gln1061Ter | |
| NM_033380.2:c.3181C>T | NP_203699.1:p.Gln1061Ter | |
| XM_005262070.2:c.3181C>T | XP_005262127.1:p.Gln1061Ter | |
| XM_005262072.3:c.3181C>T | XP_005262129.1:p.Gln1061Ter | |
| XM_006724616.2:c.3181C>T | XP_006724679.1:p.Gln1061Ter | |
| XM_011530849.1:c.2857C>T | XP_011529151.1:p.Gln953Ter | |
| XM_011530850.1:c.3181C>T | XP_011529152.1:p.Gln1061Ter | |
| XM_011530851.1:c.754C>T | XP_011529153.1:p.Gln252Ter | |
| XM_011530849.2:c.3196C>T | XP_011529151.2:p.Gln1066Ter | |
| XM_017029259.2:c.3196C>T | XP_016884748.1:p.Gln1066Ter | |
| XM_017029260.1:c.3196C>T | XP_016884749.1:p.Gln1066Ter | |
| XM_017029261.1:c.3196C>T | XP_016884750.1:p.Gln1066Ter | |
| XM_017029262.2:c.3196C>T | XP_016884751.1:p.Gln1066Ter | |
| XM_017029263.2:c.1516C>T | XP_016884752.1:p.Gln506Ter | |
| NM_000495.5:c.3181C>T | NP_000486.1:p.Gln1061Ter | |
| NM_033380.3:c.3181C>T MANE Select | NP_203699.1:p.Gln1061Ter |