Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816747T>A , CM000681.2:g.4816747T>A | GRCh38 |
| NC_000019.9:g.4816759T>A , CM000681.1:g.4816759T>A | GRCh37 |
| NC_000019.8:g.4767759T>A | NCBI36 |
| NG_031998.1:g.19996A>T , LRG_358:g.19996A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1631A>T MANE Select | ENSP00000248244.4:p.Gln544Leu | |
| ENST00000248244.5:c.1631A>T | ENSP00000248244.4:p.Gln544Leu | |
| ENST00000621756.1:c.1214A>T | ENSP00000479467.1:p.Gln405Leu | |
| NM_182919.3:c.1631A>T , LRG_358t1:c.1631A>T | NP_891549.1:p.Gln544Leu | |
| NM_001385678.1:c.1589A>T | NP_001372607.1:p.Gln530Leu | |
| NM_001385679.1:c.1496A>T | NP_001372608.1:p.Gln499Leu | |
| NM_001385680.1:c.989A>T | NP_001372609.1:p.Gln330Leu | |
| NM_182919.4:c.1631A>T MANE Select | NP_891549.1:p.Gln544Leu |