Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303747G>A , CM000675.2:g.48303747G>A | GRCh38 |
| NC_000013.10:g.48877883G>A , CM000675.1:g.48877883G>A | GRCh37 |
| NC_000013.9:g.47775884G>A | NCBI36 |
| NG_009009.1:g.5001G>A , LRG_517:g.5001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646097.1:c.-166G>A | ENSP00000496556.1:n.-166G>A | |
| ENST00000650461.1:c.-166G>A | ENSP00000497193.1:n.-166G>A | |
| NM_000321.2:c.-166G>A , LRG_517t1:c.-166G>A | NP_000312.2:n.-166G>A |