Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151664183C= , CM000667.2:g.151664183C= | GRCh38 |
| NC_000005.9:g.151043744C= , CM000667.1:g.151043744C= | GRCh37 |
| NC_000005.8:g.151023937C= | NCBI36 |
| NG_042174.1:g.27872G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003118.4:c.787G= MANE Select | NP_003109.1:p.Glu263= |
| ENST00000231061.9:c.787G= MANE Select | ENSP00000231061.4:p.Glu263= |
| NM_001309443.1:c.784G= | NP_001296372.1:p.Glu262= |
| NM_001309443.2:c.784G= | NP_001296372.1:p.Glu262= |
| NM_001309444.1:c.787G= | NP_001296373.1:p.Glu263= |
| NM_001309444.2:c.787G= | NP_001296373.1:p.Glu263= |
| NM_003118.3:c.787G= | NP_003109.1:p.Glu263= |
| ENST00000231061.8:c.787G= | ENSP00000231061.4:p.Glu263= |
| ENST00000520687.1:n.390G= |