Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178981529C>T , CM000667.2:g.178981529C>T | GRCh38 |
| NC_000005.9:g.178408530C>T , CM000667.1:g.178408530C>T | GRCh37 |
| NC_000005.8:g.178341136C>T | NCBI36 |
| NG_008105.1:g.18595G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.*128G>A MANE Select | NP_000834.2:n.*128G>A |
| ENST00000517717.3:c.*128G>A MANE Select | ENSP00000430767.1:n.*128G>A |
| NM_000843.3:c.*128G>A | NP_000834.2:n.*128G>A |
| ENST00000231188.9:c.*128G>A | ENSP00000231188.5:n.*128G>A |
| ENST00000650031.1:c.*128G>A | ENSP00000497110.1:n.*128G>A |
| ENST00000650488.1:n.1485G>A | |
| XR_941310.1:n.1470-8218C>T |