Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817049C= , CM000663.2:g.215817049C= | GRCh38 |
| NC_000001.10:g.215990391C= , CM000663.1:g.215990391C= | GRCh37 |
| NC_000001.9:g.214057014C= | NCBI36 |
| NG_009497.1:g.611348G= | |
| NG_009497.2:g.611400G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9518G= MANE Select | ENSP00000305941.3:p.Cys3173= | |
| ENST00000674083.1:c.9518G= | ENSP00000501296.1:p.Cys3173= | |
| ENST00000307340.7:c.9518G= | ENSP00000305941.3:p.Cys3173= | |
| NM_206933.2:c.9518G= | NP_996816.2:p.Cys3173= | |
| NM_206933.3:c.9518G= | NP_996816.2:p.Cys3173= | |
| NM_206933.4:c.9518G= MANE Select | NP_996816.3:p.Cys3173= |