Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7914916G>C , CM000681.2:g.7914916G>C | GRCh38 |
| NC_000019.9:g.7979801G>C , CM000681.1:g.7979801G>C | GRCh37 |
| NC_000019.8:g.7885801G>C | NCBI36 |
| NG_029438.1:g.16037G>C | |
| NG_029438.2:g.16037G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001195259.2:c.-1352G>C | NP_001182188.1:n.-1352G>C |
| ENST00000565886.2:c.-1352G>C | ENSP00000457962.1:n.-1352G>C |