Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823880G>T , CM000668.2:g.35823880G>T | GRCh38 |
| NC_000006.11:g.35791657G>T , CM000668.1:g.35791657G>T | GRCh37 |
| NC_000006.10:g.35899635G>T | NCBI36 |
| NG_012184.1:g.23587G>T | |
| NG_012184.2:g.23587G>T | |
| NG_012184.3:g.31675G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*915G>T MANE Select | ENSP00000353346.1:n.*915G>T | |
| ENST00000496656.2:n.578+4060G>T | ||
| ENST00000651132.1:c.*915G>T | ENSP00000498322.1:n.*915G>T | |
| ENST00000651676.1:c.*16+4417G>T | ENSP00000498699.1:n.*16+4417G>T | |
| ENST00000652718.1:c.508+4417G>T | ENSP00000498866.1:n.508+4417G>T | |
| ENST00000360215.2:c.*915G>T | ENSP00000353346.1:n.*915G>T | |
| ENST00000496656.1:n.812+4060G>T | ||
| NM_182548.3:c.*915G>T | NP_872354.1:n.*915G>T | |
| NM_182548.4:c.*915G>T MANE Select | NP_872354.1:n.*915G>T |