Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474625T= , CM000677.2:g.48474625T= | GRCh38 |
| NC_000015.9:g.48766822T= , CM000677.1:g.48766822T= | GRCh37 |
| NC_000015.8:g.46554114T= | NCBI36 |
| NG_008805.2:g.176164A= , LRG_778:g.176164A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3990A= | ENSP00000453958.2:p.Ala1330= | |
| ENST00000674301.2:c.3990A= | ENSP00000501333.2:p.Ala1330= | |
| ENST00000684448.1:n.2664A= | ||
| ENST00000316623.10:c.3990A= MANE Select | ENSP00000325527.5:p.Ala1330= | |
| ENST00000316623.9:c.3990A= | ENSP00000325527.5:p.Ala1330= | |
| ENST00000537463.6:c.662A= | ENSP00000440294.2:p.His221= | |
| NM_000138.4:c.3990A= , LRG_778t1:c.3990A= | NP_000129.3:p.Ala1330= | |
| NM_000138.5:c.3990A= MANE Select | NP_000129.3:p.Ala1330= |