Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21073649C>T , CM000680.2:g.21073649C>T | GRCh38 |
| NC_000018.9:g.18653610C>T , CM000680.1:g.18653610C>T | GRCh37 |
| NC_000018.8:g.16907608C>T | NCBI36 |
| NG_042178.2:g.43203G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005406.3:c.94-3036G>A MANE Select | NP_005397.1:n.94-3036G>A |
| ENST00000399799.3:c.94-3036G>A MANE Select | ENSP00000382697.1:n.94-3036G>A |
| NM_005406.2:c.94-3036G>A | NP_005397.1:n.94-3036G>A |
| ENST00000399799.2:c.94-3036G>A | ENSP00000382697.1:n.94-3036G>A |
| ENST00000635540.1:c.94-3036G>A | ENSP00000489185.1:n.94-3036G>A |
| ENST00000635540.2:c.94-3036G>A | ENSP00000489185.1:n.94-3036G>A |
| XM_011526136.1:c.94-3036G>A | XP_011524438.1:n.94-3036G>A |