Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154730A>C , CM000681.2:g.55154730A>C | GRCh38 |
| NC_000019.9:g.55666098A>C , CM000681.1:g.55666098A>C | GRCh37 |
| NC_000019.8:g.60357910A>C | NCBI36 |
| NG_007866.2:g.8003T>G , LRG_432:g.8003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+11T>G MANE Select | ENSP00000341838.5:n.372+11T>G | |
| ENST00000665070.1:c.383T>G | ENSP00000499482.1:p.Met128Arg | |
| ENST00000344887.9:c.372+11T>G | ENSP00000341838.5:n.372+11T>G | |
| ENST00000585806.5:n.371+11T>G | ||
| ENST00000586669.5:n.380+11T>G | ||
| ENST00000587176.5:n.567T>G | ||
| ENST00000588882.1:c.297+11T>G | ENSP00000466729.1:n.297+11T>G | |
| NM_000363.4:c.372+11T>G , LRG_432t1:c.372+11T>G | NP_000354.4:n.372+11T>G | |
| NM_000363.5:c.372+11T>G MANE Select | NP_000354.4:n.372+11T>G |