Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130310900G= , CM000669.2:g.130310900G= | GRCh38 |
| NC_000007.13:g.129950740G= , CM000669.1:g.129950740G= | GRCh37 |
| NC_000007.12:g.129737976G= | NCBI36 |
| NG_011788.1:g.22767G= | |
| NG_011788.2:g.22767G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222482.10:c.907G= MANE Select | ENSP00000222482.4:p.Gly303= | |
| ENST00000222482.8:c.907G= | ENSP00000222482.4:p.Gly303= | |
| ENST00000445470.6:c.808G= | ENSP00000412947.2:p.Gly270= | |
| ENST00000488025.1:n.380G= | ||
| ENST00000493259.5:c.595G= | ENSP00000419660.1:p.Gly199= | |
| NM_001163446.1:c.808G= | NP_001156918.1:p.Gly270= | |
| NM_016352.3:c.907G= | NP_057436.2:p.Gly303= | |
| NM_001163446.2:c.808G= | NP_001156918.1:p.Gly270= | |
| NM_016352.4:c.907G= MANE Select | NP_057436.2:p.Gly303= |