Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26697712A>G , CM000672.2:g.26697712A>G | GRCh38 |
| NC_000010.10:g.26986641A>G , CM000672.1:g.26986641A>G | GRCh37 |
| NC_000010.9:g.27026647A>G | NCBI36 |
| NG_008972.1:g.5047A>G | |
| NG_008972.2:g.5047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.1A>G MANE Select | ENSP00000365388.5:p.Met1Val | |
| ENST00000376215.9:c.1A>G | ENSP00000365388.5:p.Met1Val | |
| NM_014317.3:c.1A>G | NP_055132.2:p.Met1Val | |
| XR_428636.2:n.289A>G | ||
| XR_930486.1:n.289A>G | ||
| NM_001321978.1:c.1A>G | NP_001308907.1:p.Met1Val | |
| NM_001321979.1:c.-593A>G | NP_001308908.1:n.-593A>G | |
| NM_014317.4:c.1A>G | NP_055132.2:p.Met1Val | |
| XM_024447922.1:c.1A>G | XP_024303690.1:p.Met1Val | |
| XR_428636.4:n.289A>G | ||
| NM_014317.5:c.1A>G MANE Select | NP_055132.2:p.Met1Val | |
| NM_001321978.2:c.1A>G | NP_001308907.1:p.Met1Val | |
| NM_001321979.2:c.-593A>G | NP_001308908.1:n.-593A>G |