Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778479C>A , CM000682.2:g.6778479C>A | GRCh38 |
| NC_000020.10:g.6759126C>A , CM000682.1:g.6759126C>A | GRCh37 |
| NC_000020.9:g.6707126C>A | NCBI36 |
| NG_023233.1:g.15382C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.581C>A MANE Select | ENSP00000368104.3:p.Thr194Asn | |
| ENST00000378827.4:c.581C>A | ENSP00000368104.3:p.Thr194Asn | |
| NM_001200.2:c.581C>A | NP_001191.1:p.Thr194Asn | |
| XM_011529323.1:c.113C>A | XP_011527625.1:p.Thr38Asn | |
| NM_001200.3:c.581C>A | NP_001191.1:p.Thr194Asn | |
| NM_001200.4:c.581C>A MANE Select | NP_001191.1:p.Thr194Asn |