Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66209530G= , CM000674.2:g.66209530G= | GRCh38 |
| NC_000012.11:g.66603310G= , CM000674.1:g.66603310G= | GRCh37 |
| NC_000012.10:g.64889577G= | NCBI36 |
| NG_021194.1:g.25333G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.381+10G= MANE Select | ENSP00000261233.4:n.381+10G= | |
| ENST00000261233.8:c.381+10G= | ENSP00000261233.4:n.381+10G= | |
| ENST00000457197.2:c.198+10G= | ENSP00000409852.2:n.198+10G= | |
| NM_001142523.1:c.198+10G= | NP_001135995.1:n.198+10G= | |
| NM_007199.2:c.381+10G= | NP_009130.2:n.381+10G= | |
| NM_001142523.2:c.198+10G= | NP_001135995.1:n.198+10G= | |
| NM_007199.3:c.381+10G= MANE Select | NP_009130.2:n.381+10G= |