Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636590G>T , CM000681.2:g.49636590G>T | GRCh38 |
| NC_000019.9:g.50139847G>T , CM000681.1:g.50139847G>T | GRCh37 |
| NC_000019.8:g.54831659G>T | NCBI36 |
| NG_042222.1:g.8554C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.453+29C>A MANE Select | ENSP00000246792.2:n.453+29C>A | |
| ENST00000246792.3:c.453+29C>A | ENSP00000246792.2:n.453+29C>A | |
| ENST00000601532.1:n.593+29C>A | ||
| NM_006270.3:c.453+29C>A | NP_006261.1:n.453+29C>A | |
| NM_006270.4:c.453+29C>A | NP_006261.1:n.453+29C>A | |
| NM_006270.5:c.453+29C>A MANE Select | NP_006261.1:n.453+29C>A |