Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153800C>A , CM000681.2:g.55153800C>A | GRCh38 |
| NC_000019.9:g.55665168C>A , CM000681.1:g.55665168C>A | GRCh37 |
| NC_000019.8:g.60356980C>A | NCBI36 |
| NG_007866.2:g.8933G>T , LRG_432:g.8933G>T | |
| NG_011829.2:g.439G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+230G>T MANE Select | ENSP00000341838.5:n.549+230G>T | |
| ENST00000665070.1:c.582+230G>T | ENSP00000499482.1:n.582+230G>T | |
| ENST00000344887.9:c.549+230G>T | ENSP00000341838.5:n.549+230G>T | |
| ENST00000585806.5:n.548+230G>T | ||
| ENST00000588882.1:c.474+230G>T | ENSP00000466729.1:n.474+230G>T | |
| ENST00000589864.1:n.377+230G>T | ||
| NM_000363.4:c.549+230G>T , LRG_432t1:c.549+230G>T | NP_000354.4:n.549+230G>T | |
| NM_000363.5:c.549+230G>T MANE Select | NP_000354.4:n.549+230G>T |