Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949183A= , CM000672.2:g.94949183A= | GRCh38 |
| NC_000010.10:g.96708940A= , CM000672.1:g.96708940A= | GRCh37 |
| NC_000010.9:g.96698930A= | NCBI36 |
| NG_008385.1:g.15526A= | |
| NG_008385.2:g.16026A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.718A= MANE Select | ENSP00000260682.6:p.Met240= | |
| ENST00000643112.1:c.718A= | ENSP00000496202.1:p.Met240= | |
| ENST00000260682.6:c.718A= | ENSP00000260682.6:p.Met240= | |
| ENST00000473496.1:n.489A= | ||
| NM_000771.3:c.718A= | NP_000762.2:p.Met240= | |
| NM_000771.4:c.718A= MANE Select | NP_000762.2:p.Met240= |