Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003982G>A , CM000681.2:g.47003982G>A | GRCh38 |
| NC_000019.9:g.47507239G>A , CM000681.1:g.47507239G>A | GRCh37 |
| NC_000019.8:g.52199079G>A | NCBI36 |
| NG_047014.1:g.90416G>A | |
| NG_047014.2:g.147986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7794G>A | ENSP00000385720.2:n.7794G>A | |
| ENST00000672722.1:c.*3294G>A MANE Select | ENSP00000500409.1:n.*3294G>A | |
| ENST00000404338.7:c.7794G>A | ENSP00000385720.2:n.7794G>A | |
| ENST00000614079.1:c.7371G>A | ENSP00000483730.1:n.7371G>A | |
| NM_004491.4:c.7794G>A | NP_004482.4:n.7794G>A | |
| NM_004491.5:c.*3294G>A MANE Select | NP_004482.4:n.*3294G>A |