Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124730405T>C , CM000665.2:g.124730405T>C | GRCh38 |
| NC_000003.11:g.124449252T>C , CM000665.1:g.124449252T>C | GRCh37 |
| NC_000003.10:g.125931942T>C | NCBI36 |
| NG_017037.1:g.5040T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.3:c.-67T>C | NP_000364.1:n.-67T>C |
| NR_033434.1:n.40T>C | |
| NR_033437.1:n.40T>C | |
| ENST00000232607.6:c.-67T>C | ENSP00000232607.2:n.-67T>C |