Linked Data
dbSNP Id:
rs866052000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919622G>A , CM000679.2:g.74919622G>A | GRCh38 |
| NC_000017.10:g.72915717G>A , CM000679.1:g.72915717G>A | GRCh37 |
| NC_000017.9:g.70427312G>A | NCBI36 |
| NG_007882.1:g.8635C>T | |
| NG_033062.1:g.348G>A | |
| NG_007882.2:g.8642C>T | |
| NG_033062.2:g.348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1214C>T MANE Select | ENSP00000480279.1:p.Ala405Val | |
| ENST00000579243.1:c.*813C>T | ENSP00000462568.1:n.*813C>T | |
| ENST00000614341.4:c.1214C>T | ENSP00000480279.1:p.Ala405Val | |
| NM_001282489.2:c.905C>T | NP_001269418.1:p.Ala302Val | |
| NM_173477.4:c.1214C>T | NP_775748.2:p.Ala405Val | |
| XM_011524296.1:c.905C>T | XP_011522598.1:p.Ala302Val | |
| XM_011524296.2:c.905C>T | XP_011522598.1:p.Ala302Val | |
| NM_173477.5:c.1214C>T MANE Select | NP_775748.2:p.Ala405Val | |
| NM_001282489.3:c.905C>T | NP_001269418.1:p.Ala302Val |