Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781869A= , CM000672.2:g.94781869A= | GRCh38 |
| NC_000010.10:g.96541626A= , CM000672.1:g.96541626A= | GRCh37 |
| NC_000010.9:g.96531616A= | NCBI36 |
| NG_008384.2:g.24164A= | |
| NG_008384.3:g.24189A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.691A= MANE Select | ENSP00000360372.3:p.Asn231= | |
| ENST00000645461.1:n.1744A= | ||
| ENST00000371321.7:c.691A= | ENSP00000360372.3:p.Asn231= | |
| ENST00000464755.1:c.1454A= | ENSP00000483243.1:n.1454A= | |
| NM_000769.2:c.691A= | NP_000760.1:p.Asn231= | |
| NM_000769.4:c.691A= MANE Select | NP_000760.1:p.Asn231= |