Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41812764G>C , CM000679.2:g.41812764G>C | GRCh38 |
| NC_000017.10:g.39969016G>C , CM000679.1:g.39969016G>C | GRCh37 |
| NC_000017.9:g.37222542G>C | NCBI36 |
| NG_015860.1:g.5055G>C , LRG_12:g.5055G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021939.3:c.-271G>C , LRG_12t1:c.-271G>C | NP_068758.3:n.-271G>C |
| ENST00000585664.5:c.-23+25G>C | ENSP00000468703.1:n.-23+25G>C |
| ENST00000585922.5:c.-6+25G>C | ENSP00000466097.1:n.-6+25G>C |
| XM_011525099.1:c.-271G>C | XP_011523401.1:n.-271G>C |