Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701011C= , CM000669.2:g.107701011C= | GRCh38 |
| NC_000007.13:g.107341456C= , CM000669.1:g.107341456C= | GRCh37 |
| NC_000007.12:g.107128692C= | NCBI36 |
| NG_008489.1:g.45377C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1708-90C= MANE Select | NP_000432.1:n.1708-90C= |
| ENST00000644269.2:c.1708-90C= MANE Select | ENSP00000494017.1:n.1708-90C= |
| NM_000441.1:c.1708-90C= | NP_000432.1:n.1708-90C= |
| ENST00000265715.7:c.1708-90C= | ENSP00000265715.3:n.1708-90C= |
| ENST00000480841.5:n.557-90C= | |
| ENST00000492030.2:n.91-816C= | |
| ENST00000644846.1:c.419-90C= | |
| XM_005250425.1:c.1708-90C= | XP_005250482.1:n.1708-90C= |
| XM_005250425.2:c.1708-90C= | XP_005250482.1:n.1708-90C= |
| XM_017012318.1:c.1630-90C= | XP_016867807.1:n.1630-90C= |