Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034502G>C , CM000672.2:g.123034502G>C | GRCh38 |
| NC_000010.10:g.124794018G>C , CM000672.1:g.124794018G>C | GRCh37 |
| NC_000010.9:g.124784008G>C | NCBI36 |
| NG_008003.1:g.30590G>C , LRG_451:g.30590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.189G>C MANE Select | ENSP00000357873.3:p.Met63Ile | |
| ENST00000358776.6:c.189G>C | ENSP00000357873.3:p.Met63Ile | |
| ENST00000368869.8:c.-17G>C | ENSP00000357862.4:n.-17G>C | |
| ENST00000411816.2:n.206G>C | ||
| NM_001609.3:c.189G>C , LRG_451t1:c.189G>C | NP_001600.1:p.Met63Ile | |
| NM_001330174.1:c.-17G>C | NP_001317103.1:n.-17G>C | |
| NM_001330174.2:c.-17G>C | NP_001317103.1:n.-17G>C | |
| NM_001609.4:c.189G>C MANE Select | NP_001600.1:p.Met63Ile | |
| NM_001330174.3:c.-17G>C | NP_001317103.1:n.-17G>C |