Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590790A>T , CM000679.2:g.61590790A>T | GRCh38 |
| NC_000017.10:g.59668151A>T , CM000679.1:g.59668151A>T | GRCh37 |
| NC_000017.9:g.57022933A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.391T>A MANE Select | ENSP00000427802.1:p.Leu131Ile | |
| ENST00000521764.2:c.391T>A | ENSP00000427802.1:p.Leu131Ile | |
| NM_199290.3:c.391T>A | NP_954984.1:p.Leu131Ile | |
| NM_199290.4:c.391T>A MANE Select | NP_954984.1:p.Leu131Ile |