Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.24503382A>G , CM000685.2:g.24503382A>G | GRCh38 |
| NC_000023.10:g.24521499A>G , CM000685.1:g.24521499A>G | GRCh37 |
| NC_000023.9:g.24431420A>G | NCBI36 |
| NG_016762.1:g.43156A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005391.5:c.376A>G MANE Select | NP_005382.1:p.Met126Val |
| ENST00000379162.9:c.376A>G MANE Select | ENSP00000368460.4:p.Met126Val |
| NM_001142386.2:c.376A>G | NP_001135858.1:p.Met126Val |
| NM_001142386.3:c.376A>G | NP_001135858.1:p.Met126Val |
| NM_005391.4:c.376A>G | NP_005382.1:p.Met126Val |
| ENST00000379162.8:c.376A>G | ENSP00000368460.4:p.Met126Val |
| ENST00000441463.2:c.376A>G | ENSP00000387536.2:p.Met126Val |
| ENST00000568479.2:c.376A>G | ENSP00000498864.1:p.Met126Val |
| ENST00000648777.1:c.376A>G | ENSP00000497727.1:p.Met126Val |