Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891666C= , CM000664.2:g.72891666C= | GRCh38 |
| NC_000002.11:g.73118795C= , CM000664.1:g.73118795C= | GRCh37 |
| NC_000002.10:g.72972303C= | NCBI36 |
| NG_008234.1:g.9284C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*129C= MANE Select | ENSP00000234454.5:n.*129C= | |
| ENST00000234454.5:c.*129C= | ENSP00000234454.5:n.*129C= | |
| ENST00000498749.1:n.860C= | ||
| NM_003124.4:c.*129C= | NP_003115.1:n.*129C= | |
| NM_003124.5:c.*129C= MANE Select | NP_003115.1:n.*129C= |