Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788005C= , CM000664.2:g.135788005C= | GRCh38 |
| NC_000002.11:g.136545575C= , CM000664.1:g.136545575C= | GRCh37 |
| NC_000002.10:g.136262045C= | NCBI36 |
| NG_008104.2:g.72165G= , LRG_338:g.72165G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*319G= MANE Select | ENSP00000264162.2:n.*319G= | |
| ENST00000264162.6:c.*319G= | ENSP00000264162.2:n.*319G= | |
| NM_002299.2:c.*319G= , LRG_338t1:c.*319G= | NP_002290.2:n.*319G= | |
| NM_002299.3:c.*319G= | NP_002290.2:n.*319G= | |
| NM_002299.4:c.*319G= MANE Select | NP_002290.2:n.*319G= |