Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8746410T>C , CM000665.2:g.8746410T>C | GRCh38 |
| NC_000003.11:g.8788096T>C , CM000665.1:g.8788096T>C | GRCh37 |
| NC_000003.10:g.8763096T>C | NCBI36 |
| NG_008797.2:g.17601T>C , LRG_329:g.17601T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*543T>C MANE Select | ENSP00000341940.2:n.*543T>C | |
| ENST00000343849.2:c.*543T>C | ENSP00000341940.2:n.*543T>C | |
| ENST00000397368.2:c.*447T>C | ENSP00000380525.2:n.*447T>C | |
| ENST00000472766.1:n.155+12420T>C | ||
| NM_001234.4:c.*447T>C | NP_001225.1:n.*447T>C | |
| NM_033337.2:c.*543T>C , LRG_329t1:c.*543T>C | NP_203123.1:n.*543T>C | |
| NM_001234.5:c.*447T>C | NP_001225.1:n.*447T>C | |
| NM_033337.3:c.*543T>C MANE Select | NP_203123.1:n.*543T>C |