Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119326585A= , CM000672.2:g.119326585A= | GRCh38 |
| NC_000010.10:g.121086097A= , CM000672.1:g.121086097A= | GRCh37 |
| NC_000010.9:g.121076087A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005308.3:c.122A= MANE Select | NP_005299.1:p.Gln41= |
| ENST00000392870.3:c.122A= MANE Select | ENSP00000376609.2:p.Gln41= |
| NM_005308.2:c.122A= | NP_005299.1:p.Gln41= |
| ENST00000392870.2:c.122A= | ENSP00000376609.2:p.Gln41= |
| XM_005269707.1:c.122A= | XP_005269764.1:p.Gln41= |
| XM_005269707.2:c.122A= | XP_005269764.1:p.Gln41= |
| XM_005269708.1:c.53-54230A= | XP_005269765.1:n.53-54230A= |