Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22033008G>A , CM000685.2:g.22033008G>A | GRCh38 |
| NC_000023.10:g.22051126G>A , CM000685.1:g.22051126G>A | GRCh37 |
| NC_000023.9:g.21961047G>A | NCBI36 |
| NG_007563.2:g.5206G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000444.6:c.3G>A MANE Select | NP_000435.3:p.Met1Ile |
| ENST00000379374.5:c.3G>A MANE Select | ENSP00000368682.4:p.Met1Ile |
| NM_000444.5:c.3G>A | NP_000435.3:p.Met1Ile |
| NM_001282754.1:c.3G>A | NP_001269683.1:p.Met1Ile |
| NM_001282754.2:c.3G>A | NP_001269683.1:p.Met1Ile |
| ENST00000379374.4:c.3G>A | ENSP00000368682.4:p.Met1Ile |
| ENST00000475778.2:n.429G>A | |
| ENST00000683214.1:n.429G>A | |
| ENST00000684143.1:c.3G>A | ENSP00000508264.1:p.Met1Ile |
| XM_011545535.1:c.3G>A | XP_011543837.1:p.Met1Ile |
| XR_001755695.1:n.682G>A |