Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21303544G>A , CM000676.2:g.21303544G>A | GRCh38 |
| NC_000014.8:g.21771703G>A , CM000676.1:g.21771703G>A | GRCh37 |
| NC_000014.7:g.20841543G>A | NCBI36 |
| NG_008933.1:g.20568G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.800+1G>A MANE Select | NP_065099.3:n.800+1G>A |
| ENST00000400017.7:c.800+1G>A MANE Select | ENSP00000382895.2:n.800+1G>A |
| NM_020366.3:c.800+1G>A | NP_065099.3:n.800+1G>A |
| ENST00000400017.6:c.800+1G>A | ENSP00000382895.2:n.800+1G>A |
| ENST00000556336.5:c.719+1G>A | ENSP00000450445.1:n.719+1G>A |
| ENST00000557771.5:c.719+1G>A | ENSP00000451219.1:n.719+1G>A |
| XM_011536983.1:c.767+1G>A | XP_011535285.1:n.767+1G>A |