Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611550T= , CM000672.2:g.97611550T= | GRCh38 |
| NC_000010.10:g.99371307T= , CM000672.1:g.99371307T= | GRCh37 |
| NC_000010.9:g.99361297T= | NCBI36 |
| NG_027922.1:g.32206T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138413.4:c.875T= MANE Select | NP_612422.2:p.Met292= |
| ENST00000370646.9:c.875T= MANE Select | ENSP00000359680.4:p.Met292= |
| NM_001134670.1:c.386T= | NP_001128142.1:p.Met129= |
| NM_001134670.2:c.386T= | NP_001128142.1:p.Met129= |
| NM_138413.3:c.875T= | NP_612422.2:p.Met292= |
| ENST00000370646.8:c.875T= | ENSP00000359680.4:p.Met292= |
| ENST00000370647.8:c.386T= | ENSP00000359681.4:p.Met129= |
| ENST00000370649.3:c.345+9560T= | ENSP00000359683.3:n.345+9560T= |