Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128254557G= , CM000669.2:g.128254557G= | GRCh38 |
| NC_000007.13:g.127894610G= , CM000669.1:g.127894610G= | GRCh37 |
| NC_000007.12:g.127681846G= | NCBI36 |
| NG_007450.1:g.18280G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.298G= MANE Select | NP_000221.1:p.Asp100= |
| ENST00000308868.5:c.298G= MANE Select | ENSP00000312652.4:p.Asp100= |
| NM_000230.2:c.298G= | NP_000221.1:p.Asp100= |
| ENST00000308868.4:c.298G= | ENSP00000312652.4:p.Asp100= |
| XM_005250340.3:c.295G= | XP_005250397.1:p.Asp99= |
| XM_005250340.5:c.295G= | XP_005250397.1:p.Asp99= |