Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218565C>T , CM000677.2:g.89218565C>T | GRCh38 |
| NC_000015.9:g.89761796C>T , CM000677.1:g.89761796C>T | GRCh37 |
| NC_000015.8:g.87562800C>T | NCBI36 |
| NG_008116.1:g.8127G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.141G>A MANE Select | NP_000317.1:p.Lys47= |
| ENST00000268125.10:c.141G>A MANE Select | ENSP00000268125.5:p.Lys47= |
| NM_000326.4:c.141G>A | NP_000317.1:p.Lys47= |
| ENST00000268125.9:c.141G>A | ENSP00000268125.5:p.Lys47= |
| ENST00000567787.1:c.141G>A | ENSP00000457251.1:p.Lys47= |
| XM_011521870.1:c.141G>A | XP_011520172.1:p.Lys47= |
| XM_011521870.2:c.141G>A | XP_011520172.1:p.Lys47= |
| XM_011521872.1:c.-178G>A | XP_011520174.1:n.-178G>A |
| XM_017022460.1:c.168G>A | XP_016877949.1:p.Lys56= |