Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949183A>G , CM000672.2:g.94949183A>G | GRCh38 |
| NC_000010.10:g.96708940A>G , CM000672.1:g.96708940A>G | GRCh37 |
| NC_000010.9:g.96698930A>G | NCBI36 |
| NG_008385.1:g.15526A>G | |
| NG_008385.2:g.16026A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.718A>G MANE Select | ENSP00000260682.6:p.Met240Val | |
| ENST00000643112.1:c.718A>G | ENSP00000496202.1:p.Met240Val | |
| ENST00000260682.6:c.718A>G | ENSP00000260682.6:p.Met240Val | |
| ENST00000473496.1:n.489A>G | ||
| NM_000771.3:c.718A>G | NP_000762.2:p.Met240Val | |
| NM_000771.4:c.718A>G MANE Select | NP_000762.2:p.Met240Val |