Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8746179G>A , CM000665.2:g.8746179G>A | GRCh38 |
| NC_000003.11:g.8787865G>A , CM000665.1:g.8787865G>A | GRCh37 |
| NC_000003.10:g.8762865G>A | NCBI36 |
| NG_008797.2:g.17370G>A , LRG_329:g.17370G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033337.3:c.*312G>A MANE Select | NP_203123.1:n.*312G>A |
| ENST00000343849.3:c.*312G>A MANE Select | ENSP00000341940.2:n.*312G>A |
| NM_001234.4:c.*216G>A | NP_001225.1:n.*216G>A |
| NM_001234.5:c.*216G>A | NP_001225.1:n.*216G>A |
| NM_033337.2:c.*312G>A , LRG_329t1:c.*312G>A | NP_203123.1:n.*312G>A |
| ENST00000343849.2:c.*312G>A | ENSP00000341940.2:n.*312G>A |
| ENST00000397368.2:c.*216G>A | ENSP00000380525.2:n.*216G>A |
| ENST00000472766.1:n.155+12189G>A |