Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445458G>C , CM000673.2:g.2445458G>C | GRCh38 |
| NC_000011.9:g.2466688G>C , CM000673.1:g.2466688G>C | GRCh37 |
| NC_000011.8:g.2423264G>C | NCBI36 |
| NG_008935.1:g.5468G>C , LRG_287:g.5468G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.99G>C | ENSP00000434560.2:p.Trp33Cys | |
| ENST00000646564.2:c.360G>C | ENSP00000495806.2:p.Trp120Cys | |
| ENST00000155840.12:c.360G>C MANE Select | ENSP00000155840.2:p.Trp120Cys | |
| ENST00000646564.1:c.6G>C | ENSP00000495806.1:p.Trp2Cys | |
| ENST00000155840.9:c.360G>C | ENSP00000155840.2:p.Trp120Cys | |
| ENST00000345015.4:n.137G>C | ||
| ENST00000496887.6:c.99G>C | ENSP00000434560.1:p.Trp33Cys | |
| NM_000218.2:c.360G>C , LRG_287t1:c.360G>C | NP_000209.2:p.Trp120Cys | |
| NM_000218.3:c.360G>C MANE Select | NP_000209.2:p.Trp120Cys |