Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159204893T>A , CM000663.2:g.159204893T>A | GRCh38 |
| NC_000001.10:g.159174683T>A , CM000663.1:g.159174683T>A | GRCh37 |
| NC_000001.9:g.157441307T>A | NCBI36 |
| NG_011626.1:g.5174T>A | |
| NG_011626.3:g.5881T>A | |
| NG_051933.1:g.38330T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002036.4:c.-67T>A MANE Select | NP_002027.2:n.-67T>A |
| ENST00000368122.4:c.-67T>A MANE Select | ENSP00000357104.1:n.-67T>A |
| NM_001122951.3:c.-111T>A | NP_001116423.1:n.-111T>A |
| NM_002036.3:c.-67T>A | NP_002027.2:n.-67T>A |
| ENST00000368121.6:c.-111T>A | ENSP00000357103.2:n.-111T>A |
| ENST00000368122.2:c.-67T>A | ENSP00000357104.1:n.-67T>A |
| ENST00000537147.5:c.-67T>A | ENSP00000441985.1:n.-67T>A |