Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164427C= , CM000669.2:g.20164427C= | GRCh38 |
| NC_000007.13:g.20204050C= , CM000669.1:g.20204050C= | GRCh37 |
| NC_000007.12:g.20170575C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-152-28G= MANE Select | ENSP00000383185.3:n.-152-28G= | |
| ENST00000332878.8:c.-8-2557G= | ENSP00000328410.4:n.-8-2557G= | |
| ENST00000400331.9:c.-152-28G= | ENSP00000383185.3:n.-152-28G= | |
| ENST00000471019.1:n.274-28G= | ||
| ENST00000589011.1:c.-8-2557G= | ENSP00000466864.1:n.-8-2557G= | |
| NM_182762.3:c.-152-28G= | NP_877439.3:n.-152-28G= | |
| NM_182762.4:c.-152-28G= MANE Select | NP_877439.3:n.-152-28G= |