Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50197394C>A , CM000665.2:g.50197394C>A | GRCh38 |
| NC_000003.11:g.50234827C>A , CM000665.1:g.50234827C>A | GRCh37 |
| NC_000003.10:g.50209831C>A | NCBI36 |
| NG_009831.1:g.10785C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144499.3:c.*2128C>A MANE Select | NP_653082.1:n.*2128C>A |
| ENST00000232461.8:c.*2128C>A MANE Select | ENSP00000232461.3:n.*2128C>A |
| NM_000172.3:c.*994C>A | NP_000163.2:n.*994C>A |
| NM_000172.4:c.*994C>A | NP_000163.2:n.*994C>A |
| NM_144499.2:c.*2128C>A | NP_653082.1:n.*2128C>A |