Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30490287G= , CM000668.2:g.30490287G= | GRCh38 |
| NC_000006.11:g.30458064G= , CM000668.1:g.30458064G= | GRCh37 |
| NC_000006.10:g.30566043G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005516.6:c.382G= MANE Select | NP_005507.3:p.Gly128= |
| ENST00000376630.5:c.382G= MANE Select | ENSP00000365817.4:p.Gly128= |
| NM_005516.5:c.382G= | NP_005507.3:p.Gly128= |
| ENST00000376630.4:c.382G= | ENSP00000365817.4:p.Gly128= |
| ENST00000484194.1:n.648G= | |
| ENST00000493699.1:n.532G= | |
| XM_017010807.1:c.505G= | XP_016866296.1:p.Gly169= |
| XM_017010808.1:c.505G= | XP_016866297.1:p.Gly169= |
| XM_017010809.2:c.382G= | XP_016866298.1:p.Gly128= |