Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153733A>G , CM000681.2:g.55153733A>G | GRCh38 |
| NC_000019.9:g.55665101A>G , CM000681.1:g.55665101A>G | GRCh37 |
| NC_000019.8:g.60356913A>G | NCBI36 |
| NG_007866.2:g.9000T>C , LRG_432:g.9000T>C | |
| NG_011829.2:g.506T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+297T>C MANE Select | ENSP00000341838.5:n.549+297T>C | |
| ENST00000665070.1:c.582+297T>C | ENSP00000499482.1:n.582+297T>C | |
| ENST00000344887.9:c.549+297T>C | ENSP00000341838.5:n.549+297T>C | |
| ENST00000585806.5:n.548+297T>C | ||
| ENST00000588882.1:c.474+297T>C | ENSP00000466729.1:n.474+297T>C | |
| ENST00000589864.1:n.377+297T>C | ||
| NM_000363.4:c.549+297T>C , LRG_432t1:c.549+297T>C | NP_000354.4:n.549+297T>C | |
| NM_000363.5:c.549+297T>C MANE Select | NP_000354.4:n.549+297T>C |