Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116709T>A , CM000663.2:g.206116709T>A | GRCh38 |
| NC_000001.10:g.206224622A>T , CM000663.1:g.206224622A>T | GRCh37 |
| NC_000001.9:g.204391245A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.182A>T MANE Select | ENSP00000356094.4:p.Gln61Leu | |
| ENST00000367126.4:c.182A>T | ENSP00000356094.4:p.Gln61Leu | |
| ENST00000612906.1:n.36+955A>T | ||
| NM_000707.3:c.182A>T | NP_000698.1:p.Gln61Leu | |
| NM_000707.4:c.182A>T | NP_000698.1:p.Gln61Leu | |
| NM_000707.5:c.182A>T MANE Select | NP_000698.1:p.Gln61Leu |