Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6083773T>A , CM000682.2:g.6083773T>A | GRCh38 |
| NC_000020.10:g.6064420T>A , CM000682.1:g.6064420T>A | GRCh37 |
| NC_000020.9:g.6012420T>A | NCBI36 |
| NG_016213.1:g.44772A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1718+267A>T | ENSP00000514127.1:n.1718+267A>T | |
| ENST00000217289.9:c.1718+267A>T MANE Select | ENSP00000217289.4:n.1718+267A>T | |
| ENST00000217289.8:c.1718+267A>T | ENSP00000217289.4:n.1718+267A>T | |
| ENST00000478194.1:n.678+267A>T | ||
| ENST00000536936.1:c.947+267A>T | ENSP00000441063.1:n.947+267A>T | |
| NM_017671.4:c.1718+267A>T | NP_060141.3:n.1718+267A>T | |
| XM_024451935.1:c.1718+267A>T | XP_024307703.1:n.1718+267A>T | |
| NM_017671.5:c.1718+267A>T MANE Select | NP_060141.3:n.1718+267A>T |