Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816285T>A , CM000681.2:g.4816285T>A | GRCh38 |
| NC_000019.9:g.4816297T>A , CM000681.1:g.4816297T>A | GRCh37 |
| NC_000019.8:g.4767297T>A | NCBI36 |
| NG_031998.1:g.20458A>T , LRG_358:g.20458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2093A>T MANE Select | ENSP00000248244.4:p.Gln698Leu | |
| ENST00000248244.5:c.2093A>T | ENSP00000248244.4:p.Gln698Leu | |
| ENST00000621756.1:c.1595A>T | ENSP00000479467.1:p.Gln532Leu | |
| NM_182919.3:c.2093A>T , LRG_358t1:c.2093A>T | NP_891549.1:p.Gln698Leu | |
| NM_001385678.1:c.2051A>T | NP_001372607.1:p.Gln684Leu | |
| NM_001385679.1:c.1958A>T | NP_001372608.1:p.Gln653Leu | |
| NM_001385680.1:c.1451A>T | NP_001372609.1:p.Gln484Leu | |
| NM_182919.4:c.2093A>T MANE Select | NP_891549.1:p.Gln698Leu |