Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63515114C= , CM000672.2:g.63515114C= | GRCh38 |
| NC_000010.10:g.65274874C= , CM000672.1:g.65274874C= | GRCh37 |
| NC_000010.9:g.64944880C= | NCBI36 |
| NG_053187.1:g.11962G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000633035.1:n.113+6624G= | ||
| NM_001318154.1:c.-379+6624G= | NP_001305083.1:n.-379+6624G= | |
| NM_001322258.1:c.-384+6624G= | NP_001309187.1:n.-384+6624G= | |
| XM_017015897.1:c.-265+6624G= | XP_016871386.1:n.-265+6624G= | |
| XM_017015899.1:c.-701+6624G= | XP_016871388.1:n.-701+6624G= | |
| XM_017015901.1:c.-595+6624G= | XP_016871390.1:n.-595+6624G= | |
| XM_017015903.1:c.-481+6624G= | XP_016871392.1:n.-481+6624G= | |
| NM_001318154.2:c.-379+6624G= | NP_001305083.1:n.-379+6624G= | |
| NM_001322258.2:c.-384+6624G= | NP_001309187.1:n.-384+6624G= |