Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028715A= , CM000663.2:g.17028715A= | GRCh38 |
| NC_000001.10:g.17355210A= , CM000663.1:g.17355210A= | GRCh37 |
| NC_000001.9:g.17227797A= | NCBI36 |
| NG_012340.1:g.30456T= , LRG_316:g.30456T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.137T= | ENSP00000481376.2:p.Met46= | |
| ENST00000491274.6:c.266T= | ENSP00000480482.2:p.Met89= | |
| ENST00000375499.8:c.308T= MANE Select | ENSP00000364649.3:p.Met103= | |
| ENST00000375499.7:c.308T= | ENSP00000364649.3:p.Met103= | |
| ENST00000463045.2:c.137T= | ENSP00000481376.1:p.Met46= | |
| ENST00000475506.1:n.225T= | ||
| ENST00000485515.5:n.296T= | ||
| ENST00000491274.5:c.266T= | ENSP00000480482.1:p.Met89= | |
| NM_003000.2:c.308T= , LRG_316t1:c.308T= | NP_002991.2:p.Met103= | |
| NM_003000.3:c.308T= MANE Select | NP_002991.2:p.Met103= |