Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781871C= , CM000672.2:g.94781871C= | GRCh38 |
| NC_000010.10:g.96541628C= , CM000672.1:g.96541628C= | GRCh37 |
| NC_000010.9:g.96531618C= | NCBI36 |
| NG_008384.2:g.24166C= | |
| NG_008384.3:g.24191C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.693C= MANE Select | ENSP00000360372.3:p.Asn231= | |
| ENST00000645461.1:n.1746C= | ||
| ENST00000371321.7:c.693C= | ENSP00000360372.3:p.Asn231= | |
| ENST00000464755.1:c.1456C= | ENSP00000483243.1:n.1456C= | |
| NM_000769.2:c.693C= | NP_000760.1:p.Asn231= | |
| NM_000769.4:c.693C= MANE Select | NP_000760.1:p.Asn231= |