Linked Data
ClinVar Variation Id:
432099
dbSNP Id:
rs780571371
ExAC:
12:121174906 G / A
gnomAD v2:
12-121174906-G-A
gnomAD v4:
12-120737103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737103G>A , CM000674.2:g.120737103G>A | GRCh38 |
| NC_000012.11:g.121174906G>A , CM000674.1:g.121174906G>A | GRCh37 |
| NC_000012.10:g.119659289G>A | NCBI36 |
| NG_007991.1:g.16336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.328G>A MANE Select | ENSP00000242592.4:p.Ala110Thr | |
| ENST00000242592.8:c.328G>A | ENSP00000242592.4:p.Ala110Thr | |
| ENST00000411593.2:c.328G>A | ENSP00000401045.2:p.Ala110Thr | |
| ENST00000539690.1:n.440G>A | ||
| NM_000017.3:c.328G>A | NP_000008.1:p.Ala110Thr | |
| NM_001302554.1:c.328G>A | NP_001289483.1:p.Ala110Thr | |
| NM_000017.4:c.328G>A MANE Select | NP_000008.1:p.Ala110Thr | |
| NM_001302554.2:c.328G>A | NP_001289483.1:p.Ala110Thr |