Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529792T>C , CM000681.2:g.7529792T>C | GRCh38 |
| NC_000019.9:g.7594678T>C , CM000681.1:g.7594678T>C | GRCh37 |
| NC_000019.8:g.7500678T>C | NCBI36 |
| NG_013374.1:g.641T>C | |
| NG_015806.1:g.12183T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1359+80T>C MANE Select | ENSP00000264079.5:n.1359+80T>C | |
| ENST00000264079.10:c.1359+80T>C | ENSP00000264079.5:n.1359+80T>C | |
| ENST00000394321.9:n.1674+80T>C | ||
| ENST00000594692.1:n.355+80T>C | ||
| ENST00000595860.5:n.542+80T>C | ||
| ENST00000599334.1:c.236+80T>C | ||
| NM_020533.2:c.1359+80T>C | NP_065394.1:n.1359+80T>C | |
| NM_020533.3:c.1359+80T>C MANE Select | NP_065394.1:n.1359+80T>C |