Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230368628A= , CM000663.2:g.230368628A= | GRCh38 |
| NC_000001.10:g.230504374A= , CM000663.1:g.230504374A= | GRCh37 |
| NC_000001.9:g.228570997A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001258311.2:c.332-11307T= MANE Select | NP_001245240.1:n.332-11307T= |
| ENST00000391860.7:c.332-11307T= MANE Select | ENSP00000375733.2:n.332-11307T= |
| NM_001258311.1:c.332-11307T= | NP_001245240.1:n.332-11307T= |
| ENST00000391860.5:c.-14-11307T= | ENSP00000375733.1:n.-14-11307T= |
| ENST00000525115.1:c.124+8870T= | ENSP00000431404.1:n.124+8870T= |
| XM_017002330.1:c.65-11307T= | XP_016857819.1:n.65-11307T= |