Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154572200C= , CM000666.2:g.154572200C= | GRCh38 |
| NC_000004.11:g.155493352C= , CM000666.1:g.155493352C= | GRCh37 |
| NC_000004.10:g.155712802C= | NCBI36 |
| NG_008833.1:g.14221C= , LRG_558:g.14221C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005141.5:c.*1550C= MANE Select | NP_005132.2:n.*1550C= |
| ENST00000302068.9:c.*1550C= MANE Select | ENSP00000306099.4:n.*1550C= |
| NM_001184741.1:c.*1550C= | NP_001171670.1:n.*1550C= |
| NM_001382759.1:c.*1550C= | NP_001369688.1:n.*1550C= |
| NM_001382760.1:c.*1550C= | NP_001369689.1:n.*1550C= |
| NM_001382761.1:c.*1691C= | NP_001369690.1:n.*1691C= |
| NM_001382762.1:c.*1550C= | NP_001369691.1:n.*1550C= |
| NM_001382763.1:c.*1550C= | NP_001369692.1:n.*1550C= |
| NM_001382764.1:c.*1800C= | NP_001369693.1:n.*1800C= |
| NM_001382765.1:c.*1550C= | NP_001369694.1:n.*1550C= |
| NM_005141.4:c.*1550C= , LRG_558t1:c.*1550C= | NP_005132.2:n.*1550C= |