Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308226A= , CM000685.2:g.30308226A= | GRCh38 |
| NC_000023.10:g.30326343A= , CM000685.1:g.30326343A= | GRCh37 |
| NC_000023.9:g.30236264A= | NCBI36 |
| NG_009814.1:g.6153T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1138T= MANE Select | ENSP00000368253.4:p.Tyr380= | |
| ENST00000378963.1:c.253T= | ENSP00000368246.1:p.Tyr85= | |
| ENST00000378970.4:c.1138T= | ENSP00000368253.4:p.Tyr380= | |
| NM_000475.4:c.1138T= | NP_000466.2:p.Tyr380= | |
| NM_000475.5:c.1138T= MANE Select | NP_000466.2:p.Tyr380= |