Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86844997T= , CM000669.2:g.86844997T= | GRCh38 |
| NC_000007.13:g.86474313T= , CM000669.1:g.86474313T= | GRCh37 |
| NC_000007.12:g.86312249T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000840.3:c.2391+5092T= MANE Select | NP_000831.2:n.2391+5092T= |
| ENST00000361669.7:c.2391+5092T= MANE Select | ENSP00000355316.2:n.2391+5092T= |
| NM_000840.2:c.2391+5092T= | NP_000831.2:n.2391+5092T= |
| NM_001363522.1:c.1325-5373T= | NP_001350451.1:n.1325-5373T= |
| NM_001363522.2:c.1325-5373T= | NP_001350451.1:n.1325-5373T= |
| ENST00000361669.6:c.2391+5092T= | ENSP00000355316.2:n.2391+5092T= |
| ENST00000439827.1:c.1325-5373T= | ENSP00000398767.1:n.1325-5373T= |
| XM_011516088.1:c.1325-5373T= | XP_011514390.1:n.1325-5373T= |