Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788030G= , CM000664.2:g.135788030G= | GRCh38 |
| NC_000002.11:g.136545600G= , CM000664.1:g.136545600G= | GRCh37 |
| NC_000002.10:g.136262070G= | NCBI36 |
| NG_008104.2:g.72140C= , LRG_338:g.72140C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*294C= MANE Select | ENSP00000264162.2:n.*294C= | |
| ENST00000264162.6:c.*294C= | ENSP00000264162.2:n.*294C= | |
| NM_002299.2:c.*294C= , LRG_338t1:c.*294C= | NP_002290.2:n.*294C= | |
| NM_002299.3:c.*294C= | NP_002290.2:n.*294C= | |
| NM_002299.4:c.*294C= MANE Select | NP_002290.2:n.*294C= |