Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75844597G>A , CM000679.2:g.75844597G>A | GRCh38 |
| NC_000017.10:g.73840678G>A , CM000679.1:g.73840678G>A | GRCh37 |
| NC_000017.9:g.71352273G>A | NCBI36 |
| NG_007266.1:g.5121C>T , LRG_122:g.5121C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_199242.2:c.-260C>T , LRG_122t1:c.-260C>T | NP_954712.1:n.-260C>T |
| ENST00000207549.8:c.-260C>T | ENSP00000207549.3:n.-260C>T |
| ENST00000588774.2:n.52+137C>T | |
| ENST00000699512.1:c.-76+137C>T | ENSP00000514407.1:n.-76+137C>T |
| ENST00000699513.1:c.-260C>T | ENSP00000514408.1:n.-260C>T |