Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21300964A>G , CM000676.2:g.21300964A>G | GRCh38 |
| NC_000014.8:g.21769123A>G , CM000676.1:g.21769123A>G | GRCh37 |
| NC_000014.7:g.20838963A>G | NCBI36 |
| NG_008933.1:g.17988A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.219-2A>G MANE Select | NP_065099.3:n.219-2A>G |
| ENST00000400017.7:c.219-2A>G MANE Select | ENSP00000382895.2:n.219-2A>G |
| NM_020366.3:c.219-2A>G | NP_065099.3:n.219-2A>G |
| ENST00000400017.6:c.219-2A>G | ENSP00000382895.2:n.219-2A>G |
| ENST00000556336.5:c.219-2A>G | ENSP00000450445.1:n.219-2A>G |
| ENST00000557771.5:c.219-2A>G | ENSP00000451219.1:n.219-2A>G |
| XM_011536983.1:c.219-2A>G | XP_011535285.1:n.219-2A>G |