Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713315T= , CM000681.2:g.6713315T= | GRCh38 |
| NC_000019.9:g.6713326T= , CM000681.1:g.6713326T= | GRCh37 |
| NC_000019.8:g.6664326T= | NCBI36 |
| NG_009557.1:g.12337A= , LRG_27:g.12337A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.754A= | ENSP00000512083.1:p.Ile252= | |
| ENST00000695654.1:c.1A= | ENSP00000512085.1:p.Ile1= | |
| ENST00000695692.1:n.201A= | ||
| ENST00000245907.11:c.877A= MANE Select | ENSP00000245907.4:p.Ile293= | |
| ENST00000245907.10:c.877A= | ENSP00000245907.4:p.Ile293= | |
| ENST00000594270.5:n.1A= | ||
| ENST00000595577.1:n.381A= | ||
| ENST00000597442.5:n.127A= | ||
| NM_000064.3:c.877A= | NP_000055.2:p.Ile293= | |
| NM_000064.4:c.877A= MANE Select | NP_000055.2:p.Ile293= |