Linked Data
ClinVar Variation Id:
203553
dbSNP Id:
rs755856935
ExAC:
12:121175648 A / G
gnomAD v2:
12-121175648-A-G
gnomAD v4:
12-120737845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737845A>G , CM000674.2:g.120737845A>G | GRCh38 |
| NC_000012.11:g.121175648A>G , CM000674.1:g.121175648A>G | GRCh37 |
| NC_000012.10:g.119660031A>G | NCBI36 |
| NG_007991.1:g.17078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.481A>G MANE Select | ENSP00000242592.4:p.Ser161Gly | |
| ENST00000242592.8:c.481A>G | ENSP00000242592.4:p.Ser161Gly | |
| ENST00000411593.2:c.473-204A>G | ENSP00000401045.2:n.473-204A>G | |
| NM_000017.3:c.481A>G | NP_000008.1:p.Ser161Gly | |
| NM_001302554.1:c.473-204A>G | NP_001289483.1:n.473-204A>G | |
| NM_000017.4:c.481A>G MANE Select | NP_000008.1:p.Ser161Gly | |
| NM_001302554.2:c.473-204A>G | NP_001289483.1:n.473-204A>G |