Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189012366T>A , CM000664.2:g.189012366T>A | GRCh38 |
| NC_000002.11:g.189877092T>A , CM000664.1:g.189877092T>A | GRCh37 |
| NC_000002.10:g.189585337T>A | NCBI36 |
| NG_007404.1:g.42994T>A , LRG_3:g.42994T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.*592T>A MANE Select | NP_000081.2:n.*592T>A |
| ENST00000304636.9:c.*592T>A MANE Select | ENSP00000304408.4:n.*592T>A |
| NM_000090.3:c.*592T>A , LRG_3t1:c.*592T>A | NP_000081.1:n.*592T>A |
| ENST00000304636.7:c.*592T>A | ENSP00000304408.3:n.*592T>A |
| ENST00000450867.2:c.*592T>A | ENSP00000415346.2:n.*592T>A |