Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55221127C>A , CM000667.2:g.55221127C>A | GRCh38 |
| NC_000005.9:g.54516955C>A , CM000667.1:g.54516955C>A | GRCh37 |
| NC_000005.8:g.54552712C>A | NCBI36 |
| NG_051620.1:g.11189G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.607-1G>T MANE Select | NP_001177716.1:n.607-1G>T |
| ENST00000513312.3:c.607-1G>T MANE Select | ENSP00000426359.1:n.607-1G>T |
| NM_001190787.1:c.607-1G>T | NP_001177716.1:n.607-1G>T |
| ENST00000513312.1:c.607-1G>T | ENSP00000426359.1:n.607-1G>T |
| ENST00000513468.5:c.*71-1G>T | ENSP00000422165.1:n.*71-1G>T |
| ENST00000515336.1:n.544-1G>T | |
| XM_017009439.2:c.214-1G>T | XP_016864928.1:n.214-1G>T |