Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3118944A>T , CM000681.2:g.3118944A>T | GRCh38 |
| NC_000019.9:g.3118942A>T , CM000681.1:g.3118942A>T | GRCh37 |
| NC_000019.8:g.3069942A>T | NCBI36 |
| NG_033852.2:g.29535A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.626A>T MANE Select | ENSP00000078429.3:p.Gln209Leu | |
| ENST00000078429.8:c.626A>T | ENSP00000078429.3:p.Gln209Leu | |
| ENST00000586180.1:n.145A>T | ||
| ENST00000587636.1:c.172A>T | ||
| ENST00000590534.1:n.1795A>T | ||
| ENST00000591301.1:n.132A>T | ||
| NM_002067.4:c.626A>T | NP_002058.2:p.Gln209Leu | |
| NM_002067.5:c.626A>T MANE Select | NP_002058.2:p.Gln209Leu |