Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472466A>C , CM000677.2:g.40472466A>C | GRCh38 |
| NC_000015.9:g.40764665A>C , CM000677.1:g.40764665A>C | GRCh37 |
| NC_000015.8:g.38551957A>C | NCBI36 |
| NG_017074.1:g.6506A>C , LRG_600:g.6506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.*122A>C MANE Select | ENSP00000307297.6:n.*122A>C | |
| ENST00000306243.6:c.*122A>C | ENSP00000307297.5:n.*122A>C | |
| ENST00000559991.1:c.*122A>C | ENSP00000453882.1:n.*122A>C | |
| NM_130468.3:c.*122A>C , LRG_600t1:c.*122A>C | NP_569735.1:n.*122A>C | |
| NM_130468.4:c.*122A>C MANE Select | NP_569735.1:n.*122A>C |