Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788001T= , CM000664.2:g.135788001T= | GRCh38 |
| NC_000002.11:g.136545571T= , CM000664.1:g.136545571T= | GRCh37 |
| NC_000002.10:g.136262041T= | NCBI36 |
| NG_008104.2:g.72169A= , LRG_338:g.72169A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*323A= MANE Select | ENSP00000264162.2:n.*323A= | |
| ENST00000264162.6:c.*323A= | ENSP00000264162.2:n.*323A= | |
| NM_002299.2:c.*323A= , LRG_338t1:c.*323A= | NP_002290.2:n.*323A= | |
| NM_002299.3:c.*323A= | NP_002290.2:n.*323A= | |
| NM_002299.4:c.*323A= MANE Select | NP_002290.2:n.*323A= |