Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524617T= , CM000680.2:g.31524617T= | GRCh38 |
| NC_000018.9:g.29104580T= , CM000680.1:g.29104580T= | GRCh37 |
| NC_000018.8:g.27358578T= | NCBI36 |
| NG_007072.3:g.31376T= , LRG_397:g.31376T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.659+32T= | ||
| ENST00000683614.2:n.659+32T= | ||
| ENST00000682087.1:c.659+32T= | ||
| ENST00000683614.1:c.659+32T= | ||
| ENST00000261590.13:c.828+32T= MANE Select | ENSP00000261590.8:n.828+32T= | |
| ENST00000261590.12:c.828+32T= | ENSP00000261590.8:n.828+32T= | |
| NM_001943.3:c.828+32T= , LRG_397t1:c.828+32T= | NP_001934.2:n.828+32T= | |
| NM_001943.4:c.828+32T= | NP_001934.2:n.828+32T= | |
| XM_024451095.1:c.294+32T= | XP_024306863.1:n.294+32T= | |
| NM_001943.5:c.828+32T= MANE Select | NP_001934.2:n.828+32T= |