Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766817T>G , CM000681.2:g.45766817T>G | GRCh38 |
| NC_000019.9:g.46270075T>G , CM000681.1:g.46270075T>G | GRCh37 |
| NC_000019.8:g.50961915T>G | NCBI36 |
| NG_012745.1:g.7423A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1142A>C MANE Select | ENSP00000316842.4:p.Lys381Thr | |
| ENST00000317578.6:c.1142A>C | ENSP00000316842.4:p.Lys381Thr | |
| ENST00000560160.1:c.587-706A>C | ||
| ENST00000560168.1:c.*330A>C | ENSP00000453189.2:n.*330A>C | |
| ENST00000622857.1:c.16-855A>C | ENSP00000481365.1:n.16-855A>C | |
| NM_175875.4:c.1142A>C | NP_787071.2:p.Lys381Thr | |
| NM_175875.5:c.1142A>C MANE Select | NP_787071.3:p.Lys381Thr |