Linked Data
ClinVar Variation Id:
1939603
ClinVar RCV Id:
RCV002650087
dbSNP Id:
rs754655150
ExAC:
1:979396 C / T
gnomAD v2:
1-979396-C-T
gnomAD v3:
1-1044016-C-T
gnomAD v4:
1-1044016-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1044016C>T , CM000663.2:g.1044016C>T | GRCh38 |
| NC_000001.10:g.979396C>T , CM000663.1:g.979396C>T | GRCh37 |
| NC_000001.9:g.969259C>T | NCBI36 |
| NG_016346.1:g.28894C>T , LRG_198:g.28894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1992C>T MANE Select | ENSP00000368678.2:p.Cys664= | |
| ENST00000651234.1:c.1677C>T | ENSP00000499046.1:p.Cys559= | |
| ENST00000652369.1:c.1677C>T | ENSP00000498543.1:p.Cys559= | |
| ENST00000379370.6:c.1992C>T | ENSP00000368678.2:p.Cys664= | |
| ENST00000620552.4:c.1578C>T | ENSP00000484607.1:p.Cys526= | |
| NM_001305275.1:c.1992C>T | NP_001292204.1:p.Cys664= | |
| NM_198576.3:c.1992C>T | NP_940978.2:p.Cys664= | |
| XM_005244749.2:c.1992C>T | XP_005244806.1:p.Cys664= | |
| XM_006710635.2:c.1992C>T | XP_006710698.1:p.Cys664= | |
| XM_011541429.1:c.1992C>T | XP_011539731.1:p.Cys664= | |
| XM_011541430.1:c.1119C>T | XP_011539732.1:p.Cys373= | |
| XM_011541431.1:c.258C>T | XP_011539733.1:p.Cys86= | |
| XR_946650.1:n.2059C>T | ||
| NM_001364727.1:c.1677C>T | NP_001351656.1:p.Cys559= | |
| XM_005244749.3:c.1992C>T | XP_005244806.1:p.Cys664= | |
| XM_011541429.2:c.1992C>T | XP_011539731.1:p.Cys664= | |
| XR_946650.2:n.2063C>T | ||
| NM_001305275.2:c.1992C>T | NP_001292204.1:p.Cys664= | |
| NM_198576.4:c.1992C>T MANE Select | NP_940978.2:p.Cys664= | |
| NM_001364727.2:c.1677C>T | NP_001351656.1:p.Cys559= |