Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848727A>C , CM000681.2:g.40848727A>C | GRCh38 |
| NC_000019.9:g.41354632A>C , CM000681.1:g.41354632A>C | GRCh37 |
| NC_000019.8:g.46046472A>C | NCBI36 |
| NG_008377.1:g.6721T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.380T>G MANE Select | ENSP00000301141.4:p.Leu127Arg | |
| ENST00000301141.9:c.380T>G | ENSP00000301141.4:p.Leu127Arg | |
| ENST00000596719.5:n.231T>G | ||
| ENST00000600495.1:c.*192T>G | ENSP00000472905.1:n.*192T>G | |
| ENST00000601627.1:c.120-43264A>C | ||
| ENST00000610301.1:c.380T>G | ENSP00000477899.1:p.Leu127Arg | |
| NM_000762.5:c.380T>G | NP_000753.3:p.Leu127Arg | |
| NM_000762.6:c.380T>G MANE Select | NP_000753.3:p.Leu127Arg |