Linked Data
ClinVar Variation Id:
1534107
ClinVar RCV Id:
RCV002082872
dbSNP Id:
rs1310134073
gnomAD v2:
16-56913067-C-T
gnomAD v3:
16-56879155-C-T
gnomAD v4:
16-56879155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56879155C>T , CM000678.2:g.56879155C>T | GRCh38 |
| NC_000016.9:g.56913067C>T , CM000678.1:g.56913067C>T | GRCh37 |
| NC_000016.8:g.55470568C>T | NCBI36 |
| NG_009386.1:g.18949C>T | |
| NG_009386.2:g.18949C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.1263C>T MANE Select | ENSP00000456149.2:p.Cys421= | |
| ENST00000262502.5:c.1260C>T | ENSP00000262502.5:p.Cys420= | |
| ENST00000438926.6:c.1263C>T | ENSP00000402152.2:p.Cys421= | |
| ENST00000563236.5:c.1263C>T | ENSP00000456149.1:p.Cys421= | |
| ENST00000566786.5:c.1260C>T | ENSP00000457552.1:p.Cys420= | |
| NM_000339.2:c.1263C>T | NP_000330.2:p.Cys421= | |
| NM_001126107.1:c.1260C>T | NP_001119579.1:p.Cys420= | |
| NM_001126108.1:c.1263C>T | NP_001119580.1:p.Cys421= | |
| XM_005256119.1:c.1260C>T | XP_005256176.1:p.Cys420= | |
| XM_005256119.2:c.1260C>T | XP_005256176.1:p.Cys420= | |
| NM_000339.3:c.1263C>T | NP_000330.3:p.Cys421= | |
| NM_001126107.2:c.1260C>T | NP_001119579.2:p.Cys420= | |
| NM_001126108.2:c.1263C>T MANE Select | NP_001119580.2:p.Cys421= |