Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3585719C>A , CM000681.2:g.3585719C>A | GRCh38 |
| NC_000019.9:g.3585717C>A , CM000681.1:g.3585717C>A | GRCh37 |
| NC_000019.8:g.3536717C>A | NCBI36 |
| NG_031943.1:g.5149C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133261.3:c.122C>A MANE Select | NP_573568.1:p.Thr41Lys |
| ENST00000644452.3:c.122C>A MANE Select | ENSP00000493901.2:p.Thr41Lys |
| NM_133261.2:c.122C>A | NP_573568.1:p.Thr41Lys |
| ENST00000322315.5:c.122C>A | ENSP00000319254.5:p.Thr41Lys |
| ENST00000644946.1:c.122C>A | ENSP00000495068.1:p.Thr41Lys |
| XM_005259492.2:c.122C>A | XP_005259549.1:p.Thr41Lys |
| XM_005259492.3:c.122C>A | XP_005259549.1:p.Thr41Lys |