Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7853370G= , CM000663.2:g.7853370G= | GRCh38 |
| NC_000001.10:g.7913430G= , CM000663.1:g.7913430G= | GRCh37 |
| NC_000001.9:g.7836017G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021995.2:c.62C= | NP_068835.1:p.Thr21= |
| ENST00000054668.5:c.62C= | ENSP00000054668.5:p.Thr21= |
| ENST00000377516.6:c.-179C= | ENSP00000366738.2:n.-179C= |
| XM_011540537.1:c.62C= | XP_011538839.1:p.Thr21= |
| XM_011540537.2:c.62C= | XP_011538839.1:p.Thr21= |
| XM_011540538.1:c.-181C= | XP_011538840.1:n.-181C= |
| XM_017000116.1:c.62C= | XP_016855605.1:p.Thr21= |
| XM_017000117.1:c.-181C= | XP_016855606.1:n.-181C= |
| XM_017000118.1:c.-51C= | XP_016855607.1:n.-51C= |
| XM_017000119.1:c.62C= | XP_016855608.1:p.Thr21= |