Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075676C= , CM000679.2:g.8075676C= | GRCh38 |
| NC_000017.10:g.7978994C= , CM000679.1:g.7978994C= | GRCh37 |
| NC_000017.9:g.7919719C= | NCBI36 |
| NG_007099.1:g.17028G= | |
| NG_007099.2:g.17041G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1573G= MANE Select | ENSP00000497784.1:p.Ala525= | |
| ENST00000649809.1:c.637G= | ENSP00000496845.1:p.Ala213= | |
| ENST00000319144.4:c.1573G= | ENSP00000315167.4:p.Ala525= | |
| ENST00000577351.5:n.479+499G= | ||
| NM_001139.2:c.1573G= | NP_001130.1:p.Ala525= | |
| NM_001139.3:c.1573G= MANE Select | NP_001130.1:p.Ala525= |