Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21853494T>A , CM000685.2:g.21853494T>A | GRCh38 |
| NC_000023.10:g.21871612T>A , CM000685.1:g.21871612T>A | GRCh37 |
| NC_000023.9:g.21781533T>A | NCBI36 |
| NG_012797.1:g.18957T>A | |
| NG_021268.1:g.2508T>A | |
| NG_012797.2:g.18957T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379484.10:c.661T>A MANE Select | ENSP00000368798.5:p.Phe221Ile | |
| ENST00000365779.2:c.661T>A | ENSP00000368796.1:p.Phe221Ile | |
| ENST00000379484.9:c.661T>A | ENSP00000368798.5:p.Phe221Ile | |
| ENST00000465888.1:n.760T>A | ||
| NM_015884.3:c.661T>A | NP_056968.1:p.Phe221Ile | |
| NM_015884.4:c.661T>A MANE Select | NP_056968.1:p.Phe221Ile |