Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226998C= , CM000664.2:g.29226998C= | GRCh38 |
| NC_000002.11:g.29449864C= , CM000664.1:g.29449864C= | GRCh37 |
| NC_000002.10:g.29303368C= | NCBI36 |
| NG_009445.1:g.699569G= , LRG_488:g.699569G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2991G= MANE Select | ENSP00000373700.3:p.Met997= | |
| ENST00000431873.6:c.157G= | ||
| ENST00000389048.7:c.2991G= | ENSP00000373700.3:p.Met997= | |
| ENST00000618119.4:c.1860G= | ENSP00000482733.1:p.Met620= | |
| NM_004304.4:c.2991G= | NP_004295.2:p.Met997= | |
| XM_024452778.1:c.144G= | XP_024308546.1:p.Met48= | |
| XR_001738688.2:n.3847G= | ||
| NM_004304.5:c.2991G= MANE Select | NP_004295.2:p.Met997= |