Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21679016G>A , CM000678.2:g.21679016G>A | GRCh38 |
| NC_000016.9:g.21690337G>A , CM000678.1:g.21690337G>A | GRCh37 |
| NC_000016.8:g.21597838G>A | NCBI36 |
| NG_012973.1:g.5503G>A | |
| NG_012973.2:g.19884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.121-20G>A | ENSP00000373610.3:n.121-20G>A | |
| ENST00000646100.2:c.121-20G>A MANE Select | ENSP00000496564.2:n.121-20G>A | |
| ENST00000647277.1:c.121-20G>A | ENSP00000495594.1:n.121-20G>A | |
| ENST00000286149.8:c.121-20G>A | ENSP00000286149.4:n.121-20G>A | |
| ENST00000388958.7:c.121-20G>A | ENSP00000373610.3:n.121-20G>A | |
| NM_144672.3:c.121-20G>A | NP_653273.3:n.121-20G>A | |
| XM_011545747.1:c.121-20G>A | XP_011544049.1:n.121-20G>A | |
| NM_144672.4:c.121-20G>A MANE Select | NP_653273.3:n.121-20G>A |