Linked Data
ClinVar Variation Id:
1059185
ClinVar RCV Id:
RCV001838510
dbSNP Id:
rs775670671
ExAC:
2:21225068 C / G
gnomAD v2:
2-21225068-C-G
gnomAD v4:
2-21002196-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002196C>G , CM000664.2:g.21002196C>G | GRCh38 |
| NC_000002.11:g.21225068C>G , CM000664.1:g.21225068C>G | GRCh37 |
| NC_000002.10:g.21078573C>G | NCBI36 |
| NG_011793.1:g.46878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13226G>C MANE Select | ENSP00000233242.1:p.Ser4409Thr | |
| ENST00000616098.4:c.13224G>C | ENSP00000477990.1:n.13224G>C | |
| NM_000384.2:c.13226G>C | NP_000375.2:p.Ser4409Thr | |
| XM_011532809.1:c.5870-2923G>C | XP_011531111.1:n.5870-2923G>C | |
| NM_000384.3:c.13226G>C MANE Select | NP_000375.3:p.Ser4409Thr |