Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86169267A>T , CM000672.2:g.86169267A>T | GRCh38 |
| NC_000010.10:g.87929024A>T , CM000672.1:g.87929024A>T | GRCh37 |
| NC_000010.9:g.87919004A>T | NCBI36 |
| NG_011875.1:g.202227T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.521-30243T>A MANE Select | ENSP00000330148.7:n.521-30243T>A | |
| ENST00000327946.11:c.521-30243T>A | ENSP00000330148.7:n.521-30243T>A | |
| ENST00000464741.2:c.521-30243T>A | ENSP00000433064.1:n.521-30243T>A | |
| NM_017551.2:c.521-30243T>A | NP_060021.1:n.521-30243T>A | |
| XM_011539720.1:c.521-30243T>A | XP_011538022.1:n.521-30243T>A | |
| XM_011539720.2:c.521-30243T>A | XP_011538022.1:n.521-30243T>A | |
| NM_017551.3:c.521-30243T>A MANE Select | NP_060021.1:n.521-30243T>A |