Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21294810G>T , CM000676.2:g.21294810G>T | GRCh38 |
| NC_000014.8:g.21762969G>T , CM000676.1:g.21762969G>T | GRCh37 |
| NC_000014.7:g.20832809G>T | NCBI36 |
| NG_008933.1:g.11834G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.218+1G>T MANE Select | NP_065099.3:n.218+1G>T |
| ENST00000400017.7:c.218+1G>T MANE Select | ENSP00000382895.2:n.218+1G>T |
| NM_020366.3:c.218+1G>T | NP_065099.3:n.218+1G>T |
| ENST00000400017.6:c.218+1G>T | ENSP00000382895.2:n.218+1G>T |
| ENST00000556336.5:c.218+1G>T | ENSP00000450445.1:n.218+1G>T |
| ENST00000557771.5:c.218+1G>T | ENSP00000451219.1:n.218+1G>T |
| XM_011536983.1:c.218+1G>T | XP_011535285.1:n.218+1G>T |