Linked Data
ClinVar Variation Id:
2689031
ClinVar RCV Id:
RCV003490751
dbSNP Id:
rs775549101
ExAC:
10:50678911 G / C
gnomAD v2:
10-50678911-G-C
gnomAD v4:
10-49470865-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470865G>C , CM000672.2:g.49470865G>C | GRCh38 |
| NC_000010.10:g.50678911G>C , CM000672.1:g.50678911G>C | GRCh37 |
| NC_000010.9:g.50348917G>C | NCBI36 |
| NG_009442.1:g.73237C>G , LRG_465:g.73237C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3095C>G MANE Select | ENSP00000348089.5:p.Pro1032Arg | |
| ENST00000679552.1:n.166C>G | ||
| ENST00000679871.1:n.241C>G | ||
| ENST00000679974.1:n.144C>G | ||
| ENST00000681632.1:n.4498C>G | ||
| ENST00000681659.1:c.2936C>G | ENSP00000505631.1:p.Pro979Arg | |
| ENST00000355832.9:c.3095C>G | ENSP00000348089.5:p.Pro1032Arg | |
| ENST00000623073.3:c.*1391C>G | ENSP00000485650.1:n.*1391C>G | |
| ENST00000623115.3:c.1205C>G | ENSP00000485321.1:p.Pro402Arg | |
| ENST00000624341.3:c.927C>G | ||
| NM_000124.3:c.3095C>G | NP_000115.1:p.Pro1032Arg | |
| XR_945953.1:n.243-700G>C | ||
| NM_001346440.1:c.3095C>G | NP_001333369.1:p.Pro1032Arg | |
| NM_000124.4:c.3095C>G MANE Select | NP_000115.1:p.Pro1032Arg | |
| NM_001346440.2:c.3095C>G | NP_001333369.1:p.Pro1032Arg |