Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88143743T= , CM000673.2:g.88143743T= | GRCh38 |
| NC_000011.9:g.87876911T= , CM000673.1:g.87876911T= | GRCh37 |
| NC_000011.8:g.87516559T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243662.11:c.483+5932A= MANE Select | ENSP00000243662.5:n.483+5932A= | |
| ENST00000243662.10:c.483+5932A= | ENSP00000243662.5:n.483+5932A= | |
| ENST00000526372.1:c.478+5932A= | ||
| ENST00000531138.1:c.252-29603A= | ||
| NM_022337.2:c.483+5932A= | NP_071732.1:n.483+5932A= | |
| XM_017017455.2:c.483+5932A= | XP_016872944.1:n.483+5932A= | |
| XM_017017456.2:c.483+5932A= | XP_016872945.1:n.483+5932A= | |
| NM_022337.3:c.483+5932A= MANE Select | NP_071732.1:n.483+5932A= |