Linked Data
ClinVar Variation Id:
1422769
ClinVar RCV Id:
RCV001926225
dbSNP Id:
rs1240859292
gnomAD v2:
14-29236726-G-A
gnomAD v4:
14-28767520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767520G>A , CM000676.2:g.28767520G>A | GRCh38 |
| NC_000014.8:g.29236726G>A , CM000676.1:g.29236726G>A | GRCh37 |
| NC_000014.7:g.28306477G>A | NCBI36 |
| NG_009367.1:g.5440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.241G>A | ENSP00000516406.1:p.Ala81Thr | |
| ENST00000313071.7:c.241G>A MANE Select | ENSP00000339004.3:p.Ala81Thr | |
| ENST00000313071.6:c.241G>A | ENSP00000339004.3:p.Ala81Thr | |
| NM_005249.4:c.241G>A | NP_005240.3:p.Ala81Thr | |
| NM_005249.5:c.241G>A MANE Select | NP_005240.3:p.Ala81Thr |