Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153691304G= , CM000685.2:g.153691304G= | GRCh38 |
| NC_000023.10:g.152956759G= , CM000685.1:g.152956759G= | GRCh37 |
| NC_000023.9:g.152609953G= | NCBI36 |
| NG_012016.1:g.8008G= | |
| NG_012016.2:g.8008G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.395G= MANE Select | NP_005620.1:p.Gly132= |
| ENST00000253122.10:c.395G= MANE Select | ENSP00000253122.5:p.Gly132= |
| NM_001142805.1:c.395G= | NP_001136277.1:p.Gly132= |
| NM_001142805.2:c.395G= | NP_001136277.1:p.Gly132= |
| NM_001142806.1:c.50G= | NP_001136278.1:p.Gly17= |
| NM_005629.3:c.395G= | NP_005620.1:p.Gly132= |
| ENST00000253122.9:c.395G= | ENSP00000253122.5:p.Gly132= |
| ENST00000430077.6:c.50G= | ENSP00000403041.2:p.Gly17= |
| ENST00000466243.1:n.187G= | |
| ENST00000675713.1:n.149G= |