Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20143604C>T , CM000675.2:g.20143604C>T | GRCh38 |
| NC_000013.10:g.20717743C>T , CM000675.1:g.20717743C>T | GRCh37 |
| NC_000013.9:g.19615743C>T | NCBI36 |
| NG_016399.1:g.22441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.-17-299G>A MANE Select | ENSP00000241125.3:n.-17-299G>A | |
| ENST00000241125.3:c.-17-299G>A | ENSP00000241125.3:n.-17-299G>A | |
| NM_021954.3:c.-17-299G>A | NP_068773.2:n.-17-299G>A | |
| XM_005266353.1:c.-17-299G>A | XP_005266410.1:n.-17-299G>A | |
| XM_011535048.1:c.-17-299G>A | XP_011533350.1:n.-17-299G>A | |
| XM_011535048.2:c.-17-299G>A | XP_011533350.1:n.-17-299G>A | |
| NM_021954.4:c.-17-299G>A MANE Select | NP_068773.2:n.-17-299G>A |