Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142840465A>G , CM000670.2:g.142840465A>G | GRCh38 |
| NC_000008.10:g.143921881A>G , CM000670.1:g.143921881A>G | GRCh37 |
| NC_000008.9:g.143918883A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002066.3:c.28A>G MANE Select | NP_002057.1:p.Met10Val |
| ENST00000220940.2:c.28A>G MANE Select | ENSP00000220940.1:p.Met10Val |
| NM_002066.2:c.28A>G | NP_002057.1:p.Met10Val |
| ENST00000220940.1:c.28A>G | ENSP00000220940.1:p.Met10Val |
| ENST00000522728.5:c.28A>G | ENSP00000430799.1:p.Met10Val |
| XM_011516969.1:c.61A>G | XP_011515271.1:p.Met21Val |
| XM_011516970.1:c.61A>G | XP_011515272.1:p.Met21Val |
| XM_011516971.1:c.28A>G | XP_011515273.1:p.Met10Val |
| XM_011516972.1:c.28A>G | XP_011515274.1:p.Met10Val |