Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442249C= , CM000666.2:g.177442249C= | GRCh38 |
| NC_000004.11:g.178363403C= , CM000666.1:g.178363403C= | GRCh37 |
| NC_000004.10:g.178600397C= | NCBI36 |
| NG_011845.2:g.5255G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000027.4:c.127G= MANE Select | NP_000018.2:p.Ala43= |
| ENST00000264595.7:c.127G= MANE Select | ENSP00000264595.2:p.Ala43= |
| NM_000027.3:c.127G= | NP_000018.2:p.Ala43= |
| NM_001171988.1:c.127G= | NP_001165459.1:p.Ala43= |
| NM_001171988.2:c.127G= | NP_001165459.1:p.Ala43= |
| NR_033655.1:n.255G= | |
| NR_033655.2:n.189G= | |
| ENST00000264595.6:c.127G= | ENSP00000264595.2:p.Ala43= |
| ENST00000506853.5:n.161G= | |
| ENST00000510955.5:n.161G= | |
| ENST00000511231.1:n.161G= | |
| XM_006714123.2:c.127G= | XP_006714186.1:p.Ala43= |
| XR_001741155.2:n.221G= |