Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526606G>A , CM000681.2:g.7526606G>A | GRCh38 |
| NC_000019.9:g.7591492G>A , CM000681.1:g.7591492G>A | GRCh37 |
| NC_000019.8:g.7497492G>A | NCBI36 |
| NG_015806.1:g.8997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.405G>A MANE Select | ENSP00000264079.5:p.Gln135= | |
| ENST00000264079.10:c.405G>A | ENSP00000264079.5:p.Gln135= | |
| ENST00000394321.9:n.485G>A | ||
| ENST00000596008.1:n.367G>A | ||
| ENST00000598406.1:n.226G>A | ||
| ENST00000601003.1:c.405G>A | ENSP00000469074.1:p.Gln135= | |
| NM_020533.2:c.405G>A | NP_065394.1:p.Gln135= | |
| NM_020533.3:c.405G>A MANE Select | NP_065394.1:p.Gln135= |