Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001747C= , CM000674.2:g.107001747C= | GRCh38 |
| NC_000012.11:g.107395525C= , CM000674.1:g.107395525C= | GRCh37 |
| NC_000012.10:g.105919655C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.595+17G= MANE Select | ENSP00000008527.5:n.595+17G= | |
| ENST00000008527.9:c.595+17G= | ENSP00000008527.5:n.595+17G= | |
| ENST00000546722.1:n.88+17G= | ||
| ENST00000552790.5:n.1154+17G= | ||
| NM_004075.4:c.595+17G= | NP_004066.1:n.595+17G= | |
| XM_011537939.1:c.511+17G= | XP_011536241.1:n.511+17G= | |
| XM_017018832.2:c.511+17G= | XP_016874321.1:n.511+17G= | |
| XM_024448844.1:c.595+17G= | XP_024304612.1:n.595+17G= | |
| XM_024448845.1:c.511+17G= | XP_024304613.1:n.511+17G= | |
| NM_004075.5:c.595+17G= MANE Select | NP_004066.1:n.595+17G= |