Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192964T= , CM000685.2:g.50192964T= | GRCh38 |
| NC_000023.10:g.49957615T= , CM000685.1:g.49957615T= | GRCh37 |
| NC_000023.9:g.49844355T= | NCBI36 |
| NG_012552.1:g.13050A= | |
| NG_012552.2:g.13050A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1749A= MANE Select | ENSP00000351327.2:p.Gln583= | |
| ENST00000358526.6:c.1749A= | ENSP00000351327.2:p.Gln583= | |
| ENST00000376064.7:c.1722A= | ENSP00000365232.3:p.Gln574= | |
| ENST00000448865.5:c.600A= | ENSP00000402403.1:p.Gln200= | |
| ENST00000481402.5:n.1861A= | ||
| NM_003886.2:c.1749A= | NP_003877.2:p.Gln583= | |
| NM_139289.1:c.1722A= | NP_647450.1:p.Gln574= | |
| NM_003886.3:c.1749A= MANE Select | NP_003877.2:p.Gln583= | |
| NM_139289.2:c.1722A= | NP_647450.1:p.Gln574= |