Linked Data
ClinVar Variation Id:
954081
ClinVar RCV Id:
RCV001226473
dbSNP Id:
rs749008843
ExAC:
1:94544903 G / C
gnomAD v2:
1-94544903-G-C
gnomAD v3:
1-94079347-G-C
gnomAD v4:
1-94079347-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94079347G>C , CM000663.2:g.94079347G>C | GRCh38 |
| NC_000001.10:g.94544903G>C , CM000663.1:g.94544903G>C | GRCh37 |
| NC_000001.9:g.94317491G>C | NCBI36 |
| NG_009073.1:g.46803C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1214C>G MANE Select | ENSP00000359245.3:p.Pro405Arg | |
| ENST00000649773.1:c.1214C>G | ENSP00000496882.1:p.Pro405Arg | |
| ENST00000370225.3:c.1214C>G | ENSP00000359245.3:p.Pro405Arg | |
| NM_000350.2:c.1214C>G | NP_000341.2:p.Pro405Arg | |
| NM_000350.3:c.1214C>G MANE Select | NP_000341.2:p.Pro405Arg |