Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433834G>A , CM000674.2:g.52433834G>A | GRCh38 |
| NC_000012.11:g.52827618G>A , CM000674.1:g.52827618G>A | GRCh37 |
| NC_000012.10:g.51113885G>A | NCBI36 |
| NG_008403.1:g.5493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.471C>T MANE Select | ENSP00000252245.5:p.Asn157= | |
| ENST00000252245.5:c.471C>T | ENSP00000252245.5:p.Asn157= | |
| NM_004693.2:c.471C>T | NP_004684.2:p.Asn157= | |
| NM_004693.3:c.471C>T MANE Select | NP_004684.2:p.Asn157= |