Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624241T>G , CM000679.2:g.41624241T>G | GRCh38 |
| NC_000017.10:g.39780493T>G , CM000679.1:g.39780493T>G | GRCh37 |
| NC_000017.9:g.37034019T>G | NCBI36 |
| NG_008625.1:g.5390A>C | |
| NG_009090.2:g.167472A>C , LRG_401:g.167472A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.269A>C MANE Select | ENSP00000308452.8:p.Asn90Thr | |
| ENST00000311208.12:c.269A>C | ENSP00000308452.8:p.Asn90Thr | |
| ENST00000463128.5:c.-312-35A>C | ENSP00000468672.1:n.-312-35A>C | |
| ENST00000491673.1:n.335A>C | ||
| ENST00000493253.5:n.56A>C | ||
| ENST00000540235.5:c.64A>C | ENSP00000441751.2:p.Thr22Pro | |
| ENST00000577817.3:c.224A>C | ENSP00000467418.1:p.Asn75Thr | |
| NM_000422.2:c.269A>C | NP_000413.1:p.Asn90Thr | |
| NM_000422.3:c.269A>C MANE Select | NP_000413.1:p.Asn90Thr |