Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636275C>A , CM000681.2:g.49636275C>A | GRCh38 |
| NC_000019.9:g.50139532C>A , CM000681.1:g.50139532C>A | GRCh37 |
| NC_000019.8:g.54831344C>A | NCBI36 |
| NG_042222.1:g.8869G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.453+344G>T MANE Select | ENSP00000246792.2:n.453+344G>T | |
| ENST00000246792.3:c.453+344G>T | ENSP00000246792.2:n.453+344G>T | |
| ENST00000601532.1:n.593+344G>T | ||
| NM_006270.3:c.453+344G>T | NP_006261.1:n.453+344G>T | |
| NM_006270.4:c.453+344G>T | NP_006261.1:n.453+344G>T | |
| NM_006270.5:c.453+344G>T MANE Select | NP_006261.1:n.453+344G>T |