Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100091136T>A , CM000669.2:g.100091136T>A | GRCh38 |
| NC_000007.13:g.99688759T>A , CM000669.1:g.99688759T>A | GRCh37 |
| NC_000007.12:g.99526695T>A | NCBI36 |
| NG_046973.1:g.7177T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303904.8:c.633T>A MANE Select | ENSP00000304102.3:p.Ser211Arg | |
| ENST00000303904.7:c.633T>A | ENSP00000304102.3:p.Ser211Arg | |
| ENST00000418625.5:c.630T>A | ENSP00000400617.1:p.Ser210Arg | |
| ENST00000426712.1:c.270T>A | ENSP00000413702.1:p.Ser90Arg | |
| ENST00000468499.5:n.633T>A | ||
| ENST00000474823.5:n.440T>A | ||
| ENST00000483891.1:n.596T>A | ||
| NM_006833.4:c.633T>A | NP_006824.2:p.Ser211Arg | |
| NM_006833.5:c.633T>A MANE Select | NP_006824.2:p.Ser211Arg |