Linked Data
ClinVar Variation Id:
265014
ClinVar RCV Id:
RCV000255758
dbSNP Id:
rs867875828
gnomAD v3:
1-94051678-G-A
gnomAD v4:
1-94051678-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94051678G>A , CM000663.2:g.94051678G>A | GRCh38 |
| NC_000001.10:g.94517234G>A , CM000663.1:g.94517234G>A | GRCh37 |
| NC_000001.9:g.94289822G>A | NCBI36 |
| NG_009073.1:g.74472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2608C>T MANE Select | ENSP00000359245.3:p.Pro870Ser | |
| ENST00000649773.1:c.2386C>T | ENSP00000496882.1:p.Pro796Ser | |
| ENST00000370225.3:c.2608C>T | ENSP00000359245.3:p.Pro870Ser | |
| ENST00000536513.5:c.-65+11496C>T | ENSP00000439707.2:n.-65+11496C>T | |
| NM_000350.2:c.2608C>T | NP_000341.2:p.Pro870Ser | |
| NM_000350.3:c.2608C>T MANE Select | NP_000341.2:p.Pro870Ser |