Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893267A>C , CM000664.2:g.218893267A>C | GRCh38 |
| NC_000002.11:g.219757989A>C , CM000664.1:g.219757989A>C | GRCh37 |
| NC_000002.10:g.219466233A>C | NCBI36 |
| NG_012179.1:g.17735A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1250A>C MANE Select | ENSP00000258411.3:p.Lys417Thr | |
| ENST00000258411.7:c.1250A>C | ENSP00000258411.3:p.Lys417Thr | |
| ENST00000489887.1:n.47A>C | ||
| NM_025216.2:c.1250A>C | NP_079492.2:p.Lys417Thr | |
| XM_011511928.1:c.1199A>C | XP_011510230.1:p.Lys400Thr | |
| XM_011511929.1:c.1154A>C | XP_011510231.1:p.Lys385Thr | |
| XM_011511930.1:c.870A>C | XP_011510232.1:p.Gln290His | |
| XM_011511929.2:c.1154A>C | XP_011510231.1:p.Lys385Thr | |
| NM_025216.3:c.1250A>C MANE Select | NP_079492.2:p.Lys417Thr |