Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227072T= , CM000664.2:g.29227072T= | GRCh38 |
| NC_000002.11:g.29449938T= , CM000664.1:g.29449938T= | GRCh37 |
| NC_000002.10:g.29303442T= | NCBI36 |
| NG_009445.1:g.699495A= , LRG_488:g.699495A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2917A= MANE Select | ENSP00000373700.3:p.Met973= | |
| ENST00000431873.6:c.83A= | ||
| ENST00000389048.7:c.2917A= | ENSP00000373700.3:p.Met973= | |
| ENST00000618119.4:c.1786A= | ENSP00000482733.1:p.Met596= | |
| NM_004304.4:c.2917A= | NP_004295.2:p.Met973= | |
| XM_024452778.1:c.70A= | XP_024308546.1:p.Met24= | |
| XR_001738688.2:n.3773A= | ||
| NM_004304.5:c.2917A= MANE Select | NP_004295.2:p.Met973= |