Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116791863C>A , CM000673.2:g.116791863C>A | GRCh38 |
| NC_000011.9:g.116662579C>A , CM000673.1:g.116662579C>A | GRCh37 |
| NC_000011.8:g.116167789C>A | NCBI36 |
| NG_015894.2:g.5558G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001371904.1:c.-3G>T MANE Select | NP_001358833.1:n.-3G>T |
| ENST00000227665.9:c.-3G>T MANE Select | ENSP00000227665.4:n.-3G>T |
| NM_001166598.2:c.-3G>T | NP_001160070.1:n.-3G>T |
| NM_052968.5:c.-3G>T | NP_443200.2:n.-3G>T |
| ENST00000227665.8:c.-3G>T | ENSP00000227665.4:n.-3G>T |
| ENST00000433069.1:c.-3G>T | ENSP00000399701.1:n.-3G>T |
| ENST00000433069.2:c.-3G>T | ENSP00000399701.2:n.-3G>T |
| ENST00000542499.5:c.-3G>T | ENSP00000445002.1:n.-3G>T |
| ENST00000673688.1:c.-3G>T | ENSP00000501141.1:n.-3G>T |