Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816732A>T , CM000681.2:g.4816732A>T | GRCh38 |
| NC_000019.9:g.4816744A>T , CM000681.1:g.4816744A>T | GRCh37 |
| NC_000019.8:g.4767744A>T | NCBI36 |
| NG_031998.1:g.20011T>A , LRG_358:g.20011T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1646T>A MANE Select | ENSP00000248244.4:p.Leu549Gln | |
| ENST00000248244.5:c.1646T>A | ENSP00000248244.4:p.Leu549Gln | |
| ENST00000621756.1:c.1229T>A | ENSP00000479467.1:p.Leu410Gln | |
| NM_182919.3:c.1646T>A , LRG_358t1:c.1646T>A | NP_891549.1:p.Leu549Gln | |
| NM_001385678.1:c.1604T>A | NP_001372607.1:p.Leu535Gln | |
| NM_001385679.1:c.1511T>A | NP_001372608.1:p.Leu504Gln | |
| NM_001385680.1:c.1004T>A | NP_001372609.1:p.Leu335Gln | |
| NM_182919.4:c.1646T>A MANE Select | NP_891549.1:p.Leu549Gln |