Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055269C= , CM000675.2:g.33055269C= | GRCh38 |
| NC_000013.10:g.33629406C= , CM000675.1:g.33629406C= | GRCh37 |
| NC_000013.9:g.32527406C= | NCBI36 |
| NG_011485.1:g.43836C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1553C= MANE Select | ENSP00000369442.3:p.Thr518= | |
| ENST00000380099.3:c.1553C= | ENSP00000369442.3:p.Thr518= | |
| ENST00000487852.1:n.1561C= | ||
| NM_004795.3:c.1553C= | NP_004786.2:p.Thr518= | |
| XM_006719895.1:c.632C= | XP_006719958.1:p.Thr211= | |
| XM_006719895.2:c.632C= | XP_006719958.1:p.Thr211= | |
| NM_004795.4:c.1553C= MANE Select | NP_004786.2:p.Thr518= |