Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51907469G>C , CM000674.2:g.51907469G>C | GRCh38 |
| NC_000012.11:g.52301253G>C , CM000674.1:g.52301253G>C | GRCh37 |
| NC_000012.10:g.50587520G>C | NCBI36 |
| NG_009549.1:g.5052G>C , LRG_543:g.5052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.-204-28G>C | ENSP00000455848.2:n.-204-28G>C | |
| ENST00000388922.8:c.-232G>C | ENSP00000373574.4:n.-232G>C | |
| ENST00000551576.5:c.-204-28G>C | ENSP00000455848.1:n.-204-28G>C | |
| NM_000020.2:c.-232G>C , LRG_543t1:c.-232G>C | NP_000011.2:n.-232G>C | |
| XM_005269235.2:c.-204-28G>C | XP_005269292.1:n.-204-28G>C |