Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99280582G= , CM000666.2:g.99280582G= | GRCh38 |
| NC_000004.11:g.100201739G= , CM000666.1:g.100201739G= | GRCh37 |
| NC_000004.10:g.100420762G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000667.4:c.829-303C= MANE Select | NP_000658.1:n.829-303C= |
| ENST00000209668.3:c.829-303C= MANE Select | ENSP00000209668.2:n.829-303C= |
| NM_000667.3:c.829-303C= | NP_000658.1:n.829-303C= |
| NR_037884.1:n.3790-6213G= | |
| ENST00000209668.2:c.829-303C= | ENSP00000209668.2:n.829-303C= |