Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868995C= , CM000664.2:g.240868995C= | GRCh38 |
| NC_000002.11:g.241808412C= , CM000664.1:g.241808412C= | GRCh37 |
| NC_000002.10:g.241457085C= | NCBI36 |
| NG_008005.1:g.5251C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.130C= MANE Select | NP_000021.1:p.Gln44= |
| ENST00000307503.4:c.130C= MANE Select | ENSP00000302620.3:p.Gln44= |
| NM_000030.2:c.130C= | NP_000021.1:p.Gln44= |
| ENST00000307503.3:c.130C= | ENSP00000302620.3:p.Gln44= |
| ENST00000472436.1:n.150C= | |
| XR_924060.1:n.405+1238G= |