Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085202T= , CM000664.2:g.27085202T= | GRCh38 |
| NC_000002.11:g.27308070T= , CM000664.1:g.27308070T= | GRCh37 |
| NC_000002.10:g.27161574T= | NCBI36 |
| NG_012199.1:g.3460T= | |
| NG_046849.1:g.11636T= | |
| NG_012199.2:g.3460T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2618T= MANE Select | ENSP00000369677.4:p.Phe873= | |
| ENST00000380320.8:c.2618T= | ENSP00000369677.4:p.Phe873= | |
| ENST00000433140.1:c.610T= | ||
| NM_007046.3:c.2618T= | NP_008977.1:p.Phe873= | |
| XM_006711928.2:c.2575+194T= | XP_006711991.1:n.2575+194T= | |
| NM_007046.4:c.2618T= MANE Select | NP_008977.1:p.Phe873= |