Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675789A= , CM000685.2:g.38675789A= | GRCh38 |
| NC_000023.10:g.38535043A= , CM000685.1:g.38535043A= | GRCh37 |
| NC_000023.9:g.38419987A= | NCBI36 |
| NG_009160.1:g.119313A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.526A= MANE Select | ENSP00000367743.2:p.Met176= | |
| ENST00000286824.6:c.577A= | ENSP00000286824.6:p.Met193= | |
| ENST00000378482.6:c.526A= | ENSP00000367743.2:p.Met176= | |
| ENST00000419600.3:n.470A= | ||
| ENST00000465127.1:c.616A= | ENSP00000417050.1:p.Met206= | |
| ENST00000471410.5:c.*552A= | ENSP00000419290.1:n.*552A= | |
| ENST00000475216.5:c.*519A= | ENSP00000418586.1:n.*519A= | |
| ENST00000488893.5:n.709A= | ||
| NM_004615.3:c.526A= | NP_004606.2:p.Met176= | |
| NM_004615.4:c.526A= MANE Select | NP_004606.2:p.Met176= |