Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713459A= , CM000681.2:g.6713459A= | GRCh38 |
| NC_000019.9:g.6713470A= , CM000681.1:g.6713470A= | GRCh37 |
| NC_000019.8:g.6664470A= | NCBI36 |
| NG_009557.1:g.12193T= , LRG_27:g.12193T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.701T= | ENSP00000512083.1:p.Ile234= | |
| ENST00000695692.1:n.148T= | ||
| ENST00000245907.11:c.824T= MANE Select | ENSP00000245907.4:p.Ile275= | |
| ENST00000245907.10:c.824T= | ENSP00000245907.4:p.Ile275= | |
| ENST00000595577.1:n.328T= | ||
| ENST00000597442.5:n.74T= | ||
| NM_000064.3:c.824T= | NP_000055.2:p.Ile275= | |
| NM_000064.4:c.824T= MANE Select | NP_000055.2:p.Ile275= |