Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42254999T>C , CM000681.2:g.42254999T>C | GRCh38 |
| NC_000019.9:g.42759151T>C , CM000681.1:g.42759151T>C | GRCh37 |
| NC_000019.8:g.47450991T>C | NCBI36 |
| NG_042802.1:g.5166A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006494.4:c.1A>G MANE Select | NP_006485.2:p.Met1Val |
| ENST00000222329.9:c.1A>G MANE Select | ENSP00000222329.3:p.Met1Val |
| NM_001312656.1:c.-204+105A>G | NP_001299585.1:n.-204+105A>G |
| NM_001312656.2:c.-204+105A>G | NP_001299585.1:n.-204+105A>G |
| NM_006494.3:c.1A>G | NP_006485.2:p.Met1Val |
| ENST00000222329.8:c.1A>G | ENSP00000222329.3:p.Met1Val |
| ENST00000594664.1:c.1A>G | ENSP00000470087.1:p.Met1Val |
| ENST00000596818.1:n.109A>G |