Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174640T= , CM000674.2:g.21174640T= | GRCh38 |
| NC_000012.11:g.21327574T= , CM000674.1:g.21327574T= | GRCh37 |
| NC_000012.10:g.21218841T= | NCBI36 |
| NG_011745.1:g.48447T= , LRG_1022:g.48447T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.290T= MANE Select | ENSP00000256958.2:p.Ile97= | |
| ENST00000256958.2:c.290T= | ENSP00000256958.2:p.Ile97= | |
| ENST00000543498.5:c.426-2136T= | ||
| NM_006446.4:c.290T= , LRG_1022t1:c.290T= | NP_006437.3:p.Ile97= | |
| NM_006446.5:c.290T= MANE Select | NP_006437.3:p.Ile97= |