Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193074A>T , CM000685.2:g.50193074A>T | GRCh38 |
| NC_000023.10:g.49957725A>T , CM000685.1:g.49957725A>T | GRCh37 |
| NC_000023.9:g.49844465A>T | NCBI36 |
| NG_012552.1:g.12940T>A | |
| NG_012552.2:g.12940T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1639T>A MANE Select | ENSP00000351327.2:p.Ser547Thr | |
| ENST00000358526.6:c.1639T>A | ENSP00000351327.2:p.Ser547Thr | |
| ENST00000376064.7:c.1612T>A | ENSP00000365232.3:p.Ser538Thr | |
| ENST00000448865.5:c.542-52T>A | ENSP00000402403.1:n.542-52T>A | |
| ENST00000481402.5:n.1751T>A | ||
| NM_003886.2:c.1639T>A | NP_003877.2:p.Ser547Thr | |
| NM_139289.1:c.1612T>A | NP_647450.1:p.Ser538Thr | |
| NM_003886.3:c.1639T>A MANE Select | NP_003877.2:p.Ser547Thr | |
| NM_139289.2:c.1612T>A | NP_647450.1:p.Ser538Thr |