Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44259375T= , CM000683.2:g.44259375T= | GRCh38 |
| NC_000021.8:g.45679258T= , CM000683.1:g.45679258T= | GRCh37 |
| NC_000021.7:g.44503686T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175867.3:c.344+62A= MANE Select | NP_787063.1:n.344+62A= |
| ENST00000628202.3:c.344+62A= MANE Select | ENSP00000486001.1:n.344+62A= |
| NM_013369.3:c.344+62A= | NP_037501.2:n.344+62A= |
| NM_013369.4:c.344+62A= | NP_037501.2:n.344+62A= |
| NM_175867.2:c.344+62A= | NP_787063.1:n.344+62A= |
| ENST00000270172.7:c.344+62A= | ENSP00000270172.3:n.344+62A= |
| ENST00000431166.1:c.299+62A= | ENSP00000400242.1:n.299+62A= |
| ENST00000628202.2:c.344+62A= | ENSP00000486001.1:n.344+62A= |
| XM_011529536.1:c.344+62A= | XP_011527838.1:n.344+62A= |