Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960908G= , CM000670.2:g.19960908G= | GRCh38 |
| NC_000008.10:g.19818419G= , CM000670.1:g.19818419G= | GRCh37 |
| NC_000008.9:g.19862699G= | NCBI36 |
| NG_008855.1:g.26838G= | |
| NG_008855.2:g.64192G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1147G= MANE Select | ENSP00000497642.1:p.Val383= | |
| ENST00000650478.1:c.87G= | ENSP00000497560.1:p.Lys29= | |
| ENST00000311322.8:c.1147G= | ENSP00000309757.6:p.Val383= | |
| NM_000237.2:c.1147G= | NP_000228.1:p.Val383= | |
| NM_000237.3:c.1147G= MANE Select | NP_000228.1:p.Val383= |