Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19953938T>A , CM000670.2:g.19953938T>A | GRCh38 |
| NC_000008.10:g.19811449T>A , CM000670.1:g.19811449T>A | GRCh37 |
| NC_000008.9:g.19855729T>A | NCBI36 |
| NG_008855.1:g.19868T>A | |
| NG_008855.2:g.57222T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.542-182T>A MANE Select | ENSP00000497642.1:n.542-182T>A | |
| ENST00000311322.8:c.542-182T>A | ENSP00000309757.6:n.542-182T>A | |
| ENST00000520959.5:c.314-182T>A | ENSP00000428496.1:n.314-182T>A | |
| NM_000237.2:c.542-182T>A | NP_000228.1:n.542-182T>A | |
| NM_000237.3:c.542-182T>A MANE Select | NP_000228.1:n.542-182T>A |