Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848689C>G , CM000681.2:g.40848689C>G | GRCh38 |
| NC_000019.9:g.41354594C>G , CM000681.1:g.41354594C>G | GRCh37 |
| NC_000019.8:g.46046434C>G | NCBI36 |
| NG_008377.1:g.6759G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.418G>C MANE Select | ENSP00000301141.4:p.Val140Leu | |
| ENST00000301141.9:c.418G>C | ENSP00000301141.4:p.Val140Leu | |
| ENST00000596719.5:n.269G>C | ||
| ENST00000600495.1:c.*230G>C | ENSP00000472905.1:n.*230G>C | |
| ENST00000601627.1:c.120-43302C>G | ||
| ENST00000610301.1:c.418G>C | ENSP00000477899.1:p.Val140Leu | |
| NM_000762.5:c.418G>C | NP_000753.3:p.Val140Leu | |
| NM_000762.6:c.418G>C MANE Select | NP_000753.3:p.Val140Leu |