Linked Data
dbSNP Id:
rs1222600845
gnomAD v2:
11-17633877-T-C
gnomAD v3:
11-17612330-T-C
gnomAD v4:
11-17612330-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612330T>C , CM000673.2:g.17612330T>C | GRCh38 |
| NC_000011.9:g.17633877T>C , CM000673.1:g.17633877T>C | GRCh37 |
| NC_000011.8:g.17590453T>C | NCBI36 |
| NG_033191.1:g.69958T>C | |
| NG_033191.2:g.69958T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6328T>C | ENSP00000382323.2:p.Cys2110Arg | |
| ENST00000399397.6:c.6292T>C MANE Select | ENSP00000382329.2:p.Cys2098Arg | |
| ENST00000342528.2:c.3346T>C | ENSP00000341666.2:p.Cys1116Arg | |
| ENST00000399391.6:c.6328T>C | ENSP00000382323.2:p.Cys2110Arg | |
| ENST00000399397.5:c.6292T>C | ENSP00000382329.2:p.Cys2098Arg | |
| NM_001277269.1:c.6328T>C | NP_001264198.1:p.Cys2110Arg | |
| NM_001292063.1:c.6292T>C | NP_001278992.1:p.Cys2098Arg | |
| NM_001277269.2:c.6328T>C | NP_001264198.1:p.Cys2110Arg | |
| NM_001292063.2:c.6292T>C MANE Select | NP_001278992.1:p.Cys2098Arg |