Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20887675G>A , CM000684.2:g.20887675G>A | GRCh38 |
| NC_000022.10:g.21241963G>A , CM000684.1:g.21241963G>A | GRCh37 |
| NC_000022.9:g.19571963G>A | NCBI36 |
| NG_012152.1:g.33672G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004782.4:c.620-4G>A MANE Select | NP_004773.1:n.620-4G>A |
| ENST00000215730.12:c.620-4G>A MANE Select | ENSP00000215730.6:n.620-4G>A |
| NM_004782.3:c.620-4G>A | NP_004773.1:n.620-4G>A |
| ENST00000215730.11:c.620-4G>A | ENSP00000215730.6:n.620-4G>A |
| ENST00000439214.1:c.341-4G>A | ENSP00000411095.1:n.341-4G>A |