Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93588421A= , CM000672.2:g.93588421A= | GRCh38 |
| NC_000010.10:g.95348178A= , CM000672.1:g.95348178A= | GRCh37 |
| NC_000010.9:g.95338168A= | NCBI36 |
| NG_032670.1:g.26757A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371481.9:c.*812A= MANE Select | ENSP00000360536.5:n.*812A= | |
| ENST00000371481.8:c.*812A= | ENSP00000360536.4:n.*812A= | |
| ENST00000371483.8:c.*812A= | ENSP00000360538.4:n.*812A= | |
| ENST00000604414.1:c.696+12202A= | ENSP00000474477.1:n.696+12202A= | |
| NM_001195755.1:c.*812A= | NP_001182684.1:n.*812A= | |
| NM_181745.3:c.*812A= | NP_859529.2:n.*812A= | |
| NM_001195755.2:c.*812A= MANE Select | NP_001182684.1:n.*812A= | |
| NM_181745.4:c.*812A= | NP_859529.2:n.*812A= |