Linked Data
dbSNP Id:
rs750249677
ExAC:
6:36653545 C / T
gnomAD v2:
6-36653545-C-T
gnomAD v4:
6-36685768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36685768C>T , CM000668.2:g.36685768C>T | GRCh38 |
| NC_000006.11:g.36653545C>T , CM000668.1:g.36653545C>T | GRCh37 |
| NC_000006.10:g.36761523C>T | NCBI36 |
| NG_009364.1:g.12087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.463C>T MANE Select | ENSP00000244741.6:p.Arg155Cys | |
| ENST00000244741.9:c.463C>T | ENSP00000244741.5:p.Arg155Cys | |
| ENST00000373711.3:c.463C>T | ENSP00000362815.1:p.Arg155Cys | |
| ENST00000405375.5:c.463C>T | ENSP00000384849.1:p.Arg155Cys | |
| ENST00000448526.6:c.463C>T | ENSP00000409259.3:p.Arg155Cys | |
| ENST00000615513.4:c.463C>T | ENSP00000482768.1:p.Arg155Cys | |
| NM_000389.4:c.463C>T | NP_000380.1:p.Arg155Cys | |
| NM_001220777.1:c.463C>T | NP_001207706.1:p.Arg155Cys | |
| NM_001220778.1:c.463C>T | NP_001207707.1:p.Arg155Cys | |
| NM_001291549.1:c.565C>T | NP_001278478.1:p.Arg189Cys | |
| NM_078467.2:c.463C>T | NP_510867.1:p.Arg155Cys | |
| NM_000389.5:c.463C>T MANE Select | NP_000380.1:p.Arg155Cys | |
| NM_001220777.2:c.463C>T | NP_001207706.1:p.Arg155Cys | |
| NM_001220778.2:c.463C>T | NP_001207707.1:p.Arg155Cys | |
| NM_001291549.3:c.565C>T | NP_001278478.1:p.Arg189Cys | |
| NM_001374509.1:c.565C>T | NP_001361438.1:p.Arg189Cys | |
| NM_001374510.1:c.502C>T | NP_001361439.1:p.Arg168Cys | |
| NM_001374511.1:c.562C>T | NP_001361440.1:p.Arg188Cys | |
| NM_001374512.1:c.*258C>T | NP_001361441.1:n.*258C>T | |
| NM_001374513.1:c.463C>T | NP_001361442.1:p.Arg155Cys | |
| NM_078467.3:c.463C>T | NP_510867.1:p.Arg155Cys |