Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151817G= , CM000681.2:g.55151817G= | GRCh38 |
| NC_000019.9:g.55663185G= , CM000681.1:g.55663185G= | GRCh37 |
| NC_000019.8:g.60354997G= | NCBI36 |
| NG_007866.2:g.10916C= , LRG_432:g.10916C= | |
| NG_011829.2:g.2422C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.*17C= MANE Select | ENSP00000341838.5:n.*17C= | |
| ENST00000665070.1:c.*17C= | ENSP00000499482.1:n.*17C= | |
| ENST00000344887.9:c.*17C= | ENSP00000341838.5:n.*17C= | |
| ENST00000585806.5:n.649C= | ||
| ENST00000588882.1:c.*17C= | ENSP00000466729.1:n.*17C= | |
| ENST00000589864.1:n.478C= | ||
| NM_000363.4:c.*17C= , LRG_432t1:c.*17C= | NP_000354.4:n.*17C= | |
| NM_000363.5:c.*17C= MANE Select | NP_000354.4:n.*17C= |