Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1609930A>C , CM000668.2:g.1609930A>C | GRCh38 |
| NC_000006.11:g.1610165A>C , CM000668.1:g.1610165A>C | GRCh37 |
| NC_000006.10:g.1555164A>C | NCBI36 |
| NG_009368.1:g.4485A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-516A>C MANE Select | ENSP00000493906.1:n.-516A>C | |
| NM_001453.3:c.-516A>C MANE Select | NP_001444.2:n.-516A>C |