Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75769698A>G , CM000669.2:g.75769698A>G | GRCh38 |
| NC_000007.13:g.75399016A>G , CM000669.1:g.75399016A>G | GRCh37 |
| NC_000007.12:g.75236952A>G | NCBI36 |
| NG_015989.1:g.25049T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005180.9:c.280T>C MANE Select | ENSP00000005180.4:p.Leu94= | |
| ENST00000005180.8:c.280T>C | ENSP00000005180.4:p.Leu94= | |
| ENST00000394905.2:c.280T>C | ENSP00000378365.2:p.Leu94= | |
| NM_006072.4:c.280T>C | NP_006063.1:p.Leu94= | |
| XM_017011671.1:c.442T>C | XP_016867160.1:p.Leu148= | |
| XM_017011672.1:c.280T>C | XP_016867161.1:p.Leu94= | |
| NM_001371936.1:c.280T>C | NP_001358865.1:p.Leu94= | |
| NM_001371938.1:c.280T>C MANE Select | NP_001358867.1:p.Leu94= |