Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66212448C= , CM000674.2:g.66212448C= | GRCh38 |
| NC_000012.11:g.66606228C= , CM000674.1:g.66606228C= | GRCh37 |
| NC_000012.10:g.64892495C= | NCBI36 |
| NG_021194.1:g.28251C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.588+851C= MANE Select | ENSP00000261233.4:n.588+851C= | |
| ENST00000261233.8:c.588+851C= | ENSP00000261233.4:n.588+851C= | |
| ENST00000457197.2:c.405+851C= | ENSP00000409852.2:n.405+851C= | |
| NM_001142523.1:c.405+851C= | NP_001135995.1:n.405+851C= | |
| NM_007199.2:c.588+851C= | NP_009130.2:n.588+851C= | |
| NM_001142523.2:c.405+851C= | NP_001135995.1:n.405+851C= | |
| NM_007199.3:c.588+851C= MANE Select | NP_009130.2:n.588+851C= |