Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745921C= , CM000665.2:g.8745921C= | GRCh38 |
| NC_000003.11:g.8787607C= , CM000665.1:g.8787607C= | GRCh37 |
| NC_000003.10:g.8762607C= | NCBI36 |
| NG_008797.2:g.17112C= , LRG_329:g.17112C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*54C= MANE Select | ENSP00000341940.2:n.*54C= | |
| ENST00000343849.2:c.*54C= | ENSP00000341940.2:n.*54C= | |
| ENST00000397368.2:c.*7-49C= | ENSP00000380525.2:n.*7-49C= | |
| ENST00000472766.1:n.155+11931C= | ||
| NM_001234.4:c.*7-49C= | NP_001225.1:n.*7-49C= | |
| NM_033337.2:c.*54C= , LRG_329t1:c.*54C= | NP_203123.1:n.*54C= | |
| NM_001234.5:c.*7-49C= | NP_001225.1:n.*7-49C= | |
| NM_033337.3:c.*54C= MANE Select | NP_203123.1:n.*54C= |