Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32164581T>A , CM000668.2:g.32164581T>A | GRCh38 |
| NC_000006.11:g.32132358T>A , CM000668.1:g.32132358T>A | GRCh37 |
| NC_000006.10:g.32240336T>A | NCBI36 |
| NG_042283.1:g.16130T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421600.2:c.227T>A | ||
| ENST00000422437.5:c.768T>A | ENSP00000457534.1:p.Pro256= | |
| ENST00000428388.6:c.768T>A | ENSP00000455087.1:p.Pro256= | |
| ENST00000453656.6:n.899T>A | ||
| ENST00000479001.2:n.753T>A | ||
| ENST00000583227.5:c.*320T>A | ENSP00000461909.1:n.*320T>A | |
| ENST00000585246.5:c.*318-1557T>A | ENSP00000463570.1:n.*318-1557T>A | |
| NR_037861.1:n.1182T>A |