Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595577C>T , CM000681.2:g.3595577C>T | GRCh38 |
| NC_000019.9:g.3595575C>T , CM000681.1:g.3595575C>T | GRCh37 |
| NC_000019.8:g.3546575C>T | NCBI36 |
| NG_013363.1:g.16257G>A , LRG_578:g.16257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*111G>A MANE Select | ENSP00000364336.4:n.*111G>A | |
| ENST00000375190.8:c.*111G>A | ENSP00000364336.3:n.*111G>A | |
| ENST00000411851.3:c.983+160G>A | ENSP00000393333.2:n.983+160G>A | |
| ENST00000589966.1:c.754G>A | ENSP00000468145.1:p.Gly252Ser | |
| NM_001060.5:c.*111G>A , LRG_578t1:c.*111G>A | NP_001051.1:n.*111G>A | |
| NM_201636.2:c.983+160G>A | NP_963998.2:n.983+160G>A | |
| NM_001060.6:c.*111G>A MANE Select | NP_001051.1:n.*111G>A | |
| NM_201636.3:c.983+160G>A | NP_963998.2:n.983+160G>A |