Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135787916C>T , CM000664.2:g.135787916C>T | GRCh38 |
| NC_000002.11:g.136545486C>T , CM000664.1:g.136545486C>T | GRCh37 |
| NC_000002.10:g.136261956C>T | NCBI36 |
| NG_008104.2:g.72254G>A , LRG_338:g.72254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.*408G>A MANE Select | ENSP00000264162.2:n.*408G>A | |
| ENST00000264162.6:c.*408G>A | ENSP00000264162.2:n.*408G>A | |
| NM_002299.2:c.*408G>A , LRG_338t1:c.*408G>A | NP_002290.2:n.*408G>A | |
| NM_002299.3:c.*408G>A | NP_002290.2:n.*408G>A | |
| NM_002299.4:c.*408G>A MANE Select | NP_002290.2:n.*408G>A |