Linked Data
ClinVar Variation Id:
1426590
ClinVar RCV Id:
RCV001949768
dbSNP Id:
rs771415085
ExAC:
2:189899832 G / C
gnomAD v2:
2-189899832-G-C
gnomAD v3:
2-189035106-G-C
gnomAD v4:
2-189035106-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035106G>C , CM000664.2:g.189035106G>C | GRCh38 |
| NC_000002.11:g.189899832G>C , CM000664.1:g.189899832G>C | GRCh37 |
| NC_000002.10:g.189608077G>C | NCBI36 |
| NG_011799.1:g.149774C>G | |
| NG_011799.2:g.149774C>G | |
| NG_011799.3:g.195196C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.4163C>G MANE Select | ENSP00000364000.3:p.Thr1388Ser | |
| ENST00000374866.7:c.4163C>G | ENSP00000364000.3:p.Thr1388Ser | |
| ENST00000618828.1:c.3002C>G | ENSP00000482184.1:p.Thr1001Ser | |
| NM_000393.3:c.4163C>G | NP_000384.2:p.Thr1388Ser | |
| XM_011510573.1:c.4025C>G | XP_011508875.1:p.Thr1342Ser | |
| NM_000393.4:c.4163C>G | NP_000384.2:p.Thr1388Ser | |
| XM_011510573.3:c.4025C>G | XP_011508875.1:p.Thr1342Ser | |
| NM_000393.5:c.4163C>G MANE Select | NP_000384.2:p.Thr1388Ser |