Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668917C= , CM000683.2:g.31668917C= | GRCh38 |
| NC_000021.8:g.33041230C= , CM000683.1:g.33041230C= | GRCh37 |
| NC_000021.7:g.31963101C= | NCBI36 |
| NG_008689.1:g.14296C= , LRG_652:g.14296C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.*339C= MANE Select | NP_000445.1:n.*339C= |
| ENST00000270142.11:c.*339C= MANE Select | ENSP00000270142.7:n.*339C= |
| NM_000454.4:c.*339C= , LRG_652t1:c.*339C= | NP_000445.1:n.*339C= |
| ENST00000270142.10:c.*339C= | ENSP00000270142.6:n.*339C= |
| ENST00000389995.4:c.*339C= | ENSP00000374645.4:n.*339C= |
| ENST00000470944.1:n.1732C= |