Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595557C>G , CM000681.2:g.3595557C>G | GRCh38 |
| NC_000019.9:g.3595555C>G , CM000681.1:g.3595555C>G | GRCh37 |
| NC_000019.8:g.3546555C>G | NCBI36 |
| NG_013363.1:g.16277G>C , LRG_578:g.16277G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*131G>C MANE Select | ENSP00000364336.4:n.*131G>C | |
| ENST00000375190.8:c.*131G>C | ENSP00000364336.3:n.*131G>C | |
| ENST00000411851.3:c.983+180G>C | ENSP00000393333.2:n.983+180G>C | |
| ENST00000589966.1:c.774G>C | ENSP00000468145.1:p.Leu258Phe | |
| NM_001060.5:c.*131G>C , LRG_578t1:c.*131G>C | NP_001051.1:n.*131G>C | |
| NM_201636.2:c.983+180G>C | NP_963998.2:n.983+180G>C | |
| NM_001060.6:c.*131G>C MANE Select | NP_001051.1:n.*131G>C | |
| NM_201636.3:c.983+180G>C | NP_963998.2:n.983+180G>C |