Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3084537G>C , CM000682.2:g.3084537G>C | GRCh38 |
| NC_000020.10:g.3065183G>C , CM000682.1:g.3065183G>C | GRCh37 |
| NC_000020.9:g.3013183G>C | NCBI36 |
| NG_008663.1:g.5188C>G , LRG_715:g.5188C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.120+18C>G MANE Select | ENSP00000369647.3:n.120+18C>G | |
| NM_000490.4:c.120+18C>G , LRG_715t1:c.120+18C>G | NP_000481.2:n.120+18C>G | |
| XM_011529267.1:c.120+18C>G | XP_011527569.1:n.120+18C>G | |
| XM_011529267.2:c.120+18C>G | XP_011527569.1:n.120+18C>G | |
| NM_000490.5:c.120+18C>G MANE Select | NP_000481.2:n.120+18C>G |