Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422272C= , CM000676.2:g.23422272C= | GRCh38 |
| NC_000014.8:g.23891481C= , CM000676.1:g.23891481C= | GRCh37 |
| NC_000014.7:g.22961321C= | NCBI36 |
| NG_007884.1:g.18390G= , LRG_384:g.18390G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.3153G= MANE Select | ENSP00000347507.3:p.Ala1051= | |
| ENST00000355349.3:c.3153G= | ENSP00000347507.3:p.Ala1051= | |
| NM_000257.3:c.3153G= | NP_000248.2:p.Ala1051= | |
| XR_245686.3:n.3259G= | ||
| XM_017021340.1:c.3153G= | XP_016876829.1:p.Ala1051= | |
| NM_000257.4:c.3153G= MANE Select | NP_000248.2:p.Ala1051= |