Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103536195G>T , CM000663.2:g.103536195G>T | GRCh38 |
| NC_000001.10:g.104078817G>T , CM000663.1:g.104078817G>T | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.624+1G>T MANE Select | ENSP00000391432.1:n.624+1G>T | |
| ENST00000423855.6:c.624+1G>T | ENSP00000391432.1:n.624+1G>T | |
| ENST00000524631.5:c.624+1G>T | ENSP00000437278.1:n.624+1G>T | |
| ENST00000527062.5:c.147+1G>T | ENSP00000436315.1:n.147+1G>T | |
| ENST00000533099.5:c.624+1G>T | ENSP00000432886.1:n.624+1G>T | |
| NM_017619.3:c.624+1G>T | NP_060089.1:n.624+1G>T | |
| NM_017619.4:c.624+1G>T MANE Select | NP_060089.1:n.624+1G>T |