Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578050T>A , CM000671.2:g.98578050T>A | GRCh38 |
| NC_000009.11:g.101340332T>A , CM000671.1:g.101340332T>A | GRCh37 |
| NC_000009.10:g.100380153T>A | NCBI36 |
| NG_016426.1:g.136148A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.344A>T MANE Select | ENSP00000259455.2:p.Lys115Ile | |
| ENST00000637410.1:n.122A>T | ||
| ENST00000637717.1:c.-41A>T | ENSP00000490789.1:n.-41A>T | |
| ENST00000259455.3:c.344A>T | ENSP00000259455.2:p.Lys115Ile | |
| ENST00000634227.1:n.118A>T | ||
| NM_005458.7:c.344A>T | NP_005449.5:p.Lys115Ile | |
| NM_005458.8:c.344A>T MANE Select | NP_005449.5:p.Lys115Ile |