Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218724T>C , CM000676.2:g.93218724T>C | GRCh38 |
| NC_000014.8:g.93685070T>C , CM000676.1:g.93685070T>C | GRCh37 |
| NC_000014.7:g.92754823T>C | NCBI36 |
| NG_051089.1:g.16669T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.799T>C MANE Select | ENSP00000013070.6:p.Ser267Pro | |
| ENST00000013070.10:c.799T>C | ENSP00000013070.6:p.Ser267Pro | |
| ENST00000416753.5:c.571T>C | ENSP00000391706.2:p.Ser191Pro | |
| ENST00000553674.1:c.*500T>C | ENSP00000450470.1:n.*500T>C | |
| ENST00000553857.5:c.378+3443T>C | ||
| ENST00000555329.1:c.44T>C | ||
| NM_175748.3:c.799T>C | NP_786924.2:p.Ser267Pro | |
| NR_038150.1:n.901T>C | ||
| NM_175748.4:c.799T>C MANE Select | NP_786924.2:p.Ser267Pro | |
| NR_038150.2:n.701T>C |