Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816820A>G , CM000681.2:g.4816820A>G | GRCh38 |
| NC_000019.9:g.4816832A>G , CM000681.1:g.4816832A>G | GRCh37 |
| NC_000019.8:g.4767832A>G | NCBI36 |
| NG_031998.1:g.19923T>C , LRG_358:g.19923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1558T>C MANE Select | ENSP00000248244.4:p.Phe520Leu | |
| ENST00000248244.5:c.1558T>C | ENSP00000248244.4:p.Phe520Leu | |
| ENST00000621756.1:c.1141T>C | ENSP00000479467.1:p.Phe381Leu | |
| NM_182919.3:c.1558T>C , LRG_358t1:c.1558T>C | NP_891549.1:p.Phe520Leu | |
| NM_001385678.1:c.1516T>C | NP_001372607.1:p.Phe506Leu | |
| NM_001385679.1:c.1423T>C | NP_001372608.1:p.Phe475Leu | |
| NM_001385680.1:c.916T>C | NP_001372609.1:p.Phe306Leu | |
| NM_182919.4:c.1558T>C MANE Select | NP_891549.1:p.Phe520Leu |