Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897625C>A , CM000681.2:g.15897625C>A | GRCh38 |
| NC_000019.9:g.16008435C>A , CM000681.1:g.16008435C>A | GRCh37 |
| NC_000019.8:g.15869435C>A | NCBI36 |
| NG_007971.2:g.5450G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.-1-13G>T MANE Select | ENSP00000221700.3:n.-1-13G>T | |
| ENST00000011989.11:c.-1-13G>T | ENSP00000011989.8:n.-1-13G>T | |
| ENST00000221700.10:c.-1-13G>T | ENSP00000221700.3:n.-1-13G>T | |
| ENST00000392846.7:n.49+401G>T | ||
| ENST00000586927.2:c.-14G>T | ENSP00000465514.1:n.-14G>T | |
| ENST00000587671.2:c.-1-13G>T | ENSP00000467443.2:n.-1-13G>T | |
| ENST00000608168.1:n.53-13G>T | ||
| NM_001082.4:c.-1-13G>T | NP_001073.3:n.-1-13G>T | |
| NM_001082.5:c.-1-13G>T MANE Select | NP_001073.3:n.-1-13G>T |