Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648142G= , CM000673.2:g.69648142G= | GRCh38 |
| NC_000011.9:g.69462910G= , CM000673.1:g.69462910G= | GRCh37 |
| NC_000011.8:g.69172091G= | NCBI36 |
| NG_007375.1:g.12038G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723G= MANE Select | ENSP00000227507.2:p.Pro241= | |
| ENST00000227507.2:c.723G= | ENSP00000227507.2:p.Pro241= | |
| ENST00000536559.1:c.*143G= | ENSP00000438482.1:n.*143G= | |
| ENST00000542367.1:n.186G= | ||
| ENST00000545484.1:n.429G= | ||
| NM_053056.2:c.723G= | NP_444284.1:p.Pro241= | |
| XM_006718653.2:c.747G= | XP_006718716.1:p.Pro249= | |
| NM_053056.3:c.723G= MANE Select | NP_444284.1:p.Pro241= |