Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69642525C= , CM000673.2:g.69642525C= | GRCh38 |
| NC_000011.9:g.69457293C= , CM000673.1:g.69457293C= | GRCh37 |
| NC_000011.8:g.69166474C= | NCBI36 |
| NG_007375.1:g.6421C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.199-506C= MANE Select | ENSP00000227507.2:n.199-506C= | |
| ENST00000227507.2:c.199-506C= | ENSP00000227507.2:n.199-506C= | |
| ENST00000535993.1:n.282-506C= | ||
| ENST00000536559.1:c.198+1014C= | ENSP00000438482.1:n.198+1014C= | |
| ENST00000539241.1:n.348-506C= | ||
| NM_053056.2:c.199-506C= | NP_444284.1:n.199-506C= | |
| XM_006718653.2:c.222+191C= | XP_006718716.1:n.222+191C= | |
| NM_053056.3:c.199-506C= MANE Select | NP_444284.1:n.199-506C= |