Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043177C= , CM000664.2:g.189043177C= | GRCh38 |
| NC_000002.11:g.189907903C= , CM000664.1:g.189907903C= | GRCh37 |
| NC_000002.10:g.189616148C= | NCBI36 |
| NG_011799.1:g.141703G= | |
| NG_011799.2:g.141703G= | |
| NG_011799.3:g.187125G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3445G= MANE Select | ENSP00000364000.3:p.Gly1149= | |
| ENST00000374866.7:c.3445G= | ENSP00000364000.3:p.Gly1149= | |
| ENST00000618828.1:c.2284G= | ENSP00000482184.1:p.Gly762= | |
| NM_000393.3:c.3445G= | NP_000384.2:p.Gly1149= | |
| XM_011510573.1:c.3307G= | XP_011508875.1:p.Gly1103= | |
| NM_000393.4:c.3445G= | NP_000384.2:p.Gly1149= | |
| XM_011510573.3:c.3307G= | XP_011508875.1:p.Gly1103= | |
| NM_000393.5:c.3445G= MANE Select | NP_000384.2:p.Gly1149= |