Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56982180G= , CM000678.2:g.56982180G= | GRCh38 |
| NC_000016.9:g.57016092G= , CM000678.1:g.57016092G= | GRCh37 |
| NC_000016.8:g.55573593G= | NCBI36 |
| NG_008952.1:g.25258G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.1264G= MANE Select | NP_000069.2:p.Val422= |
| ENST00000200676.8:c.1264G= MANE Select | ENSP00000200676.3:p.Val422= |
| NM_000078.2:c.1264G= | NP_000069.2:p.Val422= |
| NM_001286085.1:c.1084G= | NP_001273014.1:p.Val362= |
| NM_001286085.2:c.1084G= | NP_001273014.1:p.Val362= |
| ENST00000200676.7:c.1264G= | ENSP00000200676.3:p.Val422= |
| ENST00000379780.6:c.1084G= | ENSP00000369106.2:p.Val362= |
| ENST00000566128.1:c.1069G= | ENSP00000456276.1:p.Val357= |
| ENST00000650358.1:n.1662G= |