Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63319604G= , CM000680.2:g.63319604G= | GRCh38 |
| NC_000018.9:g.60986837G= , CM000680.1:g.60986837G= | GRCh37 |
| NC_000018.8:g.59137817G= | NCBI36 |
| NG_009361.1:g.4777C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000633.3:c.-717C= MANE Select | NP_000624.2:n.-717C= |
| ENST00000333681.5:c.-717C= MANE Select | ENSP00000329623.3:n.-717C= |
| NM_000657.3:c.-717C= | NP_000648.2:n.-717C= |
| ENST00000333681.4:c.-717C= | ENSP00000329623.3:n.-717C= |
| ENST00000398117.1:c.-938C= | ENSP00000381185.1:n.-938C= |
| XM_011526135.1:c.-938C= | XP_011524437.1:n.-938C= |
| XM_011526135.3:c.-938C= | XP_011524437.1:n.-938C= |
| XM_017025917.2:c.-717C= | XP_016881406.1:n.-717C= |
| XR_935246.1:n.175C= | |
| XR_935247.1:n.175C= | |
| XR_935248.1:n.175C= | |
| XR_935248.3:n.677C= |