Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91620369A>C , CM000676.2:g.91620369A>C | GRCh38 |
| NC_000014.8:g.92086713A>C , CM000676.1:g.92086713A>C | GRCh37 |
| NC_000014.7:g.91156466A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024764.4:c.2260+1239T>G MANE Select | NP_079040.2:n.2260+1239T>G |
| ENST00000256343.8:c.2260+1239T>G MANE Select | ENSP00000256343.3:n.2260+1239T>G |
| NM_024764.3:c.2260+1239T>G | NP_079040.2:n.2260+1239T>G |
| ENST00000256343.7:c.2260+1239T>G | ENSP00000256343.3:n.2260+1239T>G |
| ENST00000557036.1:c.945+1239T>G | ENSP00000451083.1:n.945+1239T>G |