Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.132321978C= , CM000668.2:g.132321978C= | GRCh38 |
| NC_000006.11:g.132643117C= , CM000668.1:g.132643117C= | GRCh37 |
| NC_000006.10:g.132684810C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367963.8:c.1305+701G= MANE Select | ENSP00000356940.3:n.1305+701G= | |
| ENST00000336749.3:c.1101+701G= | ENSP00000336998.3:n.1101+701G= | |
| ENST00000367963.7:c.1305+701G= | ENSP00000356940.3:n.1305+701G= | |
| ENST00000489128.1:n.427+701G= | ||
| NM_015529.3:c.1305+701G= | NP_056344.2:n.1305+701G= | |
| XM_017010714.2:c.1200+701G= | XP_016866203.1:n.1200+701G= | |
| NM_015529.4:c.1305+701G= MANE Select | NP_056344.2:n.1305+701G= |