Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778479C= , CM000682.2:g.6778479C= | GRCh38 |
| NC_000020.10:g.6759126C= , CM000682.1:g.6759126C= | GRCh37 |
| NC_000020.9:g.6707126C= | NCBI36 |
| NG_023233.1:g.15382C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.581C= MANE Select | ENSP00000368104.3:p.Thr194= | |
| ENST00000378827.4:c.581C= | ENSP00000368104.3:p.Thr194= | |
| NM_001200.2:c.581C= | NP_001191.1:p.Thr194= | |
| XM_011529323.1:c.113C= | XP_011527625.1:p.Thr38= | |
| NM_001200.3:c.581C= | NP_001191.1:p.Thr194= | |
| NM_001200.4:c.581C= MANE Select | NP_001191.1:p.Thr194= |