Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81358122A= , CM000678.2:g.81358122A= | GRCh38 |
| NC_000016.9:g.81391727A= , CM000678.1:g.81391727A= | GRCh37 |
| NC_000016.8:g.79949228A= | NCBI36 |
| NG_009007.1:g.48157A= , LRG_242:g.48157A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*681+191A= | ENSP00000498114.1:n.*681+191A= | |
| ENST00000648994.2:c.973+191A= MANE Select | ENSP00000497351.1:n.973+191A= | |
| ENST00000650388.1:c.507+191A= | ENSP00000498081.1:n.507+191A= | |
| ENST00000568107.2:c.973+191A= | ENSP00000476795.1:n.973+191A= | |
| NM_022041.3:c.973+191A= , LRG_242t1:c.973+191A= | NP_071324.1:n.973+191A= | |
| XM_017023734.1:c.334+191A= | XP_016879223.1:n.334+191A= | |
| NM_001377486.1:c.334+191A= | NP_001364415.1:n.334+191A= | |
| NM_022041.4:c.973+191A= MANE Select | NP_071324.1:n.973+191A= |