Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816295T>A , CM000681.2:g.4816295T>A | GRCh38 |
| NC_000019.9:g.4816307T>A , CM000681.1:g.4816307T>A | GRCh37 |
| NC_000019.8:g.4767307T>A | NCBI36 |
| NG_031998.1:g.20448A>T , LRG_358:g.20448A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2083A>T MANE Select | ENSP00000248244.4:p.Met695Leu | |
| ENST00000248244.5:c.2083A>T | ENSP00000248244.4:p.Met695Leu | |
| ENST00000621756.1:c.1585A>T | ENSP00000479467.1:p.Met529Leu | |
| NM_182919.3:c.2083A>T , LRG_358t1:c.2083A>T | NP_891549.1:p.Met695Leu | |
| NM_001385678.1:c.2041A>T | NP_001372607.1:p.Met681Leu | |
| NM_001385679.1:c.1948A>T | NP_001372608.1:p.Met650Leu | |
| NM_001385680.1:c.1441A>T | NP_001372609.1:p.Met481Leu | |
| NM_182919.4:c.2083A>T MANE Select | NP_891549.1:p.Met695Leu |