Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13914914G= , CM000680.2:g.13914914G= | GRCh38 |
| NC_000018.9:g.13914913G= , CM000680.1:g.13914913G= | GRCh37 |
| NC_000018.8:g.13904913G= | NCBI36 |
| NG_011819.1:g.5623C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000529.2:c.-129+574C= MANE Select | NP_000520.1:n.-129+574C= |
| ENST00000327606.4:c.-129+574C= MANE Select | ENSP00000333821.2:n.-129+574C= |
| NM_001291911.1:c.-129+716C= | NP_001278840.1:n.-129+716C= |
| ENST00000327606.3:c.-129+574C= | ENSP00000333821.2:n.-129+574C= |
| ENST00000399821.2:c.-129+716C= | ENSP00000382718.2:n.-129+716C= |
| XM_017025781.1:c.-661+574C= | XP_016881270.1:n.-661+574C= |