Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775540G>T , CM000672.2:g.94775540G>T | GRCh38 |
| NC_000010.10:g.96535297G>T , CM000672.1:g.96535297G>T | GRCh37 |
| NC_000010.9:g.96525287G>T | NCBI36 |
| NG_008384.2:g.17835G>T | |
| NG_008384.3:g.17860G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.481+1G>T MANE Select | ENSP00000360372.3:n.481+1G>T | |
| ENST00000645461.1:n.1534+1G>T | ||
| ENST00000371321.7:c.481+1G>T | ENSP00000360372.3:n.481+1G>T | |
| ENST00000464755.1:c.1244+1G>T | ENSP00000483243.1:n.1244+1G>T | |
| ENST00000480405.2:c.482G>T | ENSP00000483847.1:p.Gly161Val | |
| NM_000769.2:c.481+1G>T | NP_000760.1:n.481+1G>T | |
| NM_000769.4:c.481+1G>T MANE Select | NP_000760.1:n.481+1G>T |