Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816943G>C , CM000681.2:g.4816943G>C | GRCh38 |
| NC_000019.9:g.4816955G>C , CM000681.1:g.4816955G>C | GRCh37 |
| NC_000019.8:g.4767955G>C | NCBI36 |
| NG_031998.1:g.19800C>G , LRG_358:g.19800C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1435C>G MANE Select | ENSP00000248244.4:p.Arg479Gly | |
| ENST00000248244.5:c.1435C>G | ENSP00000248244.4:p.Arg479Gly | |
| ENST00000621756.1:c.1018C>G | ENSP00000479467.1:p.Arg340Gly | |
| NM_182919.3:c.1435C>G , LRG_358t1:c.1435C>G | NP_891549.1:p.Arg479Gly | |
| NM_001385678.1:c.1393C>G | NP_001372607.1:p.Arg465Gly | |
| NM_001385679.1:c.1300C>G | NP_001372608.1:p.Arg434Gly | |
| NM_001385680.1:c.793C>G | NP_001372609.1:p.Arg265Gly | |
| NM_182919.4:c.1435C>G MANE Select | NP_891549.1:p.Arg479Gly |