Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37727871C= , CM000685.2:g.37727871C= | GRCh38 |
| NC_000023.10:g.37587124C= , CM000685.1:g.37587124C= | GRCh37 |
| NC_000023.9:g.37472063C= | NCBI36 |
| NG_007473.1:g.47012C= | |
| NG_007473.3:g.46992C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.744C= MANE Select | ENSP00000367879.3:p.Phe248= | |
| ENST00000378616.3:c.744C= | ENSP00000367879.3:p.Phe248= | |
| ENST00000465127.1:c.171+301871C= | ENSP00000417050.1:n.171+301871C= | |
| NM_021083.2:c.744C= | NP_066569.1:p.Phe248= | |
| NM_021083.4:c.744C= MANE Select | NP_066569.1:p.Phe248= |