Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131913076C= , CM000667.2:g.131913076C= | GRCh38 |
| NC_000005.9:g.131248769C= , CM000667.1:g.131248769C= | GRCh37 |
| NC_000005.8:g.131276668C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442687.6:c.639-1197G= MANE Select | ENSP00000488568.1:n.639-1197G= | |
| ENST00000652469.1:c.*374-1197G= | ENSP00000498837.1:n.*374-1197G= | |
| ENST00000413683.5:c.*564-1197G= | ENSP00000415140.1:n.*564-1197G= | |
| ENST00000442687.5:c.639-1197G= | ENSP00000488568.1:n.639-1197G= | |
| ENST00000446743.1:n.158-1197G= | ||
| ENST00000616644.2:c.639-1197G= | ENSP00000481155.1:n.639-1197G= | |
| NM_001303622.1:c.639-1197G= | NP_001290551.1:n.639-1197G= | |
| NM_001303622.2:c.639-1197G= MANE Select | NP_001290551.1:n.639-1197G= |