Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601692T>A , CM000672.2:g.110601692T>A | GRCh38 |
| NC_000010.10:g.112361450T>A , CM000672.1:g.112361450T>A | GRCh37 |
| NC_000010.9:g.112351440T>A | NCBI36 |
| NG_012217.1:g.39002T>A , LRG_774:g.39002T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4933T>A | ||
| ENST00000685743.1:n.2408T>A | ||
| ENST00000686057.1:n.1051T>A | ||
| ENST00000689321.1:n.1663T>A | ||
| ENST00000689986.1:n.489T>A | ||
| ENST00000361804.5:c.2700T>A MANE Select | ENSP00000354720.5:p.Ser900Arg | |
| ENST00000361804.4:c.2700T>A | ENSP00000354720.4:p.Ser900Arg | |
| NM_005445.3:c.2700T>A , LRG_774t1:c.2700T>A | NP_005436.1:p.Ser900Arg | |
| NM_005445.4:c.2700T>A MANE Select | NP_005436.1:p.Ser900Arg |