Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704363T= , CM000669.2:g.107704363T= | GRCh38 |
| NC_000007.13:g.107344808T= , CM000669.1:g.107344808T= | GRCh37 |
| NC_000007.12:g.107132044T= | NCBI36 |
| NG_008489.1:g.48729T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.2067T= MANE Select | NP_000432.1:p.Asn689= |
| ENST00000644269.2:c.2067T= MANE Select | ENSP00000494017.1:p.Asn689= |
| NM_000441.1:c.2067T= | NP_000432.1:p.Asn689= |
| ENST00000265715.7:c.2067T= | ENSP00000265715.3:p.Asn689= |
| ENST00000492030.2:n.354T= | |
| ENST00000644846.1:c.745+2306T= | |
| XM_005250425.1:c.2067T= | XP_005250482.1:p.Asn689= |
| XM_005250425.2:c.2067T= | XP_005250482.1:p.Asn689= |
| XM_017012318.1:c.1989T= | XP_016867807.1:p.Asn663= |