Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39181805A>C , CM000676.2:g.39181805A>C | GRCh38 |
| NC_000014.8:g.39651009A>C , CM000676.1:g.39651009A>C | GRCh37 |
| NC_000014.7:g.38720760A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216832.9:c.2096A>C MANE Select | ENSP00000216832.4:p.Lys699Thr | |
| ENST00000216832.8:c.2096A>C | ENSP00000216832.4:p.Lys699Thr | |
| ENST00000557680.1:n.471-504A>C | ||
| NM_002687.3:c.2096A>C | NP_002678.2:p.Lys699Thr | |
| NM_002687.4:c.2096A>C MANE Select | NP_002678.3:p.Lys699Thr |