Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682928A= , CM000668.2:g.38682928A= | GRCh38 |
| NC_000006.11:g.38650704A= , CM000668.1:g.38650704A= | GRCh37 |
| NC_000006.10:g.38758682A= | NCBI36 |
| NG_012074.1:g.25249T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-53T= MANE Select | ENSP00000362463.3:n.309-53T= | |
| ENST00000373365.4:c.309-53T= | ENSP00000362463.3:n.309-53T= | |
| ENST00000470973.1:n.288T= | ||
| NM_006708.2:c.309-53T= | NP_006699.2:n.309-53T= | |
| NM_006708.3:c.309-53T= MANE Select | NP_006699.2:n.309-53T= |