Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365485A= , CM000678.2:g.81365485A= | GRCh38 |
| NC_000016.9:g.81399090A= , CM000678.1:g.81399090A= | GRCh37 |
| NC_000016.8:g.79956591A= | NCBI36 |
| NG_009007.1:g.55520A= , LRG_242:g.55520A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1210+7A= | ENSP00000498114.1:n.*1210+7A= | |
| ENST00000648994.2:c.1502+7A= MANE Select | ENSP00000497351.1:n.1502+7A= | |
| ENST00000650388.1:c.1036+7A= | ENSP00000498081.1:n.1036+7A= | |
| ENST00000567335.1:n.60+7A= | ||
| ENST00000568107.2:c.1502+7A= | ENSP00000476795.1:n.1502+7A= | |
| NM_022041.3:c.1502+7A= , LRG_242t1:c.1502+7A= | NP_071324.1:n.1502+7A= | |
| XM_017023734.1:c.863+7A= | XP_016879223.1:n.863+7A= | |
| NM_001377486.1:c.863+7A= | NP_001364415.1:n.863+7A= | |
| NM_022041.4:c.1502+7A= MANE Select | NP_071324.1:n.1502+7A= |