Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710083G= , CM000669.2:g.107710083G= | GRCh38 |
| NC_000007.13:g.107350528G= , CM000669.1:g.107350528G= | GRCh37 |
| NC_000007.12:g.107137764G= | NCBI36 |
| NG_008489.1:g.54449G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2119G= MANE Select | ENSP00000494017.1:p.Gly707= | |
| ENST00000644846.1:c.775G= | ||
| ENST00000265715.7:c.2119G= | ENSP00000265715.3:p.Gly707= | |
| ENST00000492030.2:n.377-72G= | ||
| NM_000441.1:c.2119G= | NP_000432.1:p.Gly707= | |
| XM_005250425.1:c.2119G= | XP_005250482.1:p.Gly707= | |
| XM_005250425.2:c.2119G= | XP_005250482.1:p.Gly707= | |
| XM_017012318.1:c.2041G= | XP_016867807.1:p.Gly681= | |
| NM_000441.2:c.2119G= MANE Select | NP_000432.1:p.Gly707= |