Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174703T>A , CM000674.2:g.21174703T>A | GRCh38 |
| NC_000012.11:g.21327637T>A , CM000674.1:g.21327637T>A | GRCh37 |
| NC_000012.10:g.21218904T>A | NCBI36 |
| NG_011745.1:g.48510T>A , LRG_1022:g.48510T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.353T>A MANE Select | ENSP00000256958.2:p.Met118Lys | |
| ENST00000256958.2:c.353T>A | ENSP00000256958.2:p.Met118Lys | |
| ENST00000543498.5:c.426-2073T>A | ||
| NM_006446.4:c.353T>A , LRG_1022t1:c.353T>A | NP_006437.3:p.Met118Lys | |
| NM_006446.5:c.353T>A MANE Select | NP_006437.3:p.Met118Lys |