Linked Data
dbSNP Id:
rs777225097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648141C>A , CM000673.2:g.69648141C>A | GRCh38 |
| NC_000011.9:g.69462909C>A , CM000673.1:g.69462909C>A | GRCh37 |
| NC_000011.8:g.69172090C>A | NCBI36 |
| NG_007375.1:g.12037C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.722C>A MANE Select | ENSP00000227507.2:p.Pro241Gln | |
| ENST00000227507.2:c.722C>A | ENSP00000227507.2:p.Pro241Gln | |
| ENST00000536559.1:c.*142C>A | ENSP00000438482.1:n.*142C>A | |
| ENST00000542367.1:n.185C>A | ||
| ENST00000545484.1:n.428C>A | ||
| NM_053056.2:c.722C>A | NP_444284.1:p.Pro241Gln | |
| XM_006718653.2:c.746C>A | XP_006718716.1:p.Pro249Gln | |
| NM_053056.3:c.722C>A MANE Select | NP_444284.1:p.Pro241Gln |