Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770264T= , CM000682.2:g.6770264T= | GRCh38 |
| NC_000020.10:g.6750911T= , CM000682.1:g.6750911T= | GRCh37 |
| NC_000020.9:g.6698911T= | NCBI36 |
| NG_023233.1:g.7167T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.138T= MANE Select | ENSP00000368104.3:p.Ser46= | |
| ENST00000378827.4:c.138T= | ENSP00000368104.3:p.Ser46= | |
| NM_001200.2:c.138T= | NP_001191.1:p.Ser46= | |
| XM_011529323.1:c.-123+1389T= | XP_011527625.1:n.-123+1389T= | |
| NM_001200.3:c.138T= | NP_001191.1:p.Ser46= | |
| NM_001200.4:c.138T= MANE Select | NP_001191.1:p.Ser46= |