Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173235085G= , CM000667.2:g.173235085G= | GRCh38 |
| NC_000005.9:g.172662088G= , CM000667.1:g.172662088G= | GRCh37 |
| NC_000005.8:g.172594694G= | NCBI36 |
| NG_013340.1:g.5228C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.-2C= MANE Select | ENSP00000327758.4:n.-2C= | |
| ENST00000329198.4:c.-2C= | ENSP00000327758.4:n.-2C= | |
| ENST00000424406.2:c.-2C= | ENSP00000395378.2:n.-2C= | |
| ENST00000517440.1:c.-2C= | ENSP00000429905.1:n.-2C= | |
| ENST00000521848.1:c.-2C= | ENSP00000427906.1:n.-2C= | |
| NM_001166175.1:c.-2C= | NP_001159647.1:n.-2C= | |
| NM_001166176.1:c.-2C= | NP_001159648.1:n.-2C= | |
| NM_004387.3:c.-2C= | NP_004378.1:n.-2C= | |
| XM_017009071.2:c.-2C= | XP_016864560.1:n.-2C= | |
| NM_004387.4:c.-2C= MANE Select | NP_004378.1:n.-2C= | |
| NM_001166175.2:c.-2C= | NP_001159647.1:n.-2C= | |
| NM_001166176.2:c.-2C= | NP_001159648.1:n.-2C= |