Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94849951T= , CM000672.2:g.94849951T= | GRCh38 |
| NC_000010.10:g.96609708T= , CM000672.1:g.96609708T= | GRCh37 |
| NC_000010.9:g.96599698T= | NCBI36 |
| NG_008384.2:g.92246T= | |
| NG_008384.3:g.92271T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1184T= MANE Select | ENSP00000360372.3:p.Leu395= | |
| ENST00000645461.1:n.2095T= | ||
| ENST00000371321.7:c.1184T= | ENSP00000360372.3:p.Leu395= | |
| ENST00000464755.1:c.1947T= | ENSP00000483243.1:n.1947T= | |
| NM_000769.2:c.1184T= | NP_000760.1:p.Leu395= | |
| NM_000769.4:c.1184T= MANE Select | NP_000760.1:p.Leu395= |