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