Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177077T>C , CM000678.2:g.177077T>C | GRCh38 |
| NC_000016.9:g.227076T>C , CM000678.1:g.227076T>C | GRCh37 |
| NC_000016.8:g.167076T>C | NCBI36 |
| NG_000006.1:g.37940T>C | |
| NG_059186.1:g.5427T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.244T>C MANE Select | ENSP00000322421.5:p.Ser82Pro | |
| ENST00000397797.1:c.148T>C | ENSP00000380899.1:p.Ser50Pro | |
| ENST00000472694.1:n.380T>C | ||
| ENST00000487791.1:n.213T>C | ||
| NM_000558.4:c.244T>C | NP_000549.1:p.Ser82Pro | |
| NM_000558.5:c.244T>C MANE Select | NP_000549.1:p.Ser82Pro |