Linked Data
ClinVar Variation Id:
236089
ClinVar RCV Id:
RCV000408560
dbSNP Id:
rs766570903
gnomAD v2:
1-94528152-G-C
gnomAD v4:
1-94062596-G-C
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062596G>C , CM000663.2:g.94062596G>C | GRCh38 |
| NC_000001.10:g.94528152G>C , CM000663.1:g.94528152G>C | GRCh37 |
| NC_000001.9:g.94300740G>C | NCBI36 |
| NG_009073.1:g.63554C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1918C>G MANE Select | ENSP00000359245.3:p.Pro640Ala | |
| ENST00000649773.1:c.1918C>G | ENSP00000496882.1:p.Pro640Ala | |
| ENST00000370225.3:c.1918C>G | ENSP00000359245.3:p.Pro640Ala | |
| ENST00000536513.5:c.-65+578C>G | ENSP00000439707.2:n.-65+578C>G | |
| NM_000350.2:c.1918C>G | NP_000341.2:p.Pro640Ala | |
| NM_000350.3:c.1918C>G MANE Select | NP_000341.2:p.Pro640Ala |