Linked Data
ClinVar Variation Id:
2384681
ClinVar RCV Id:
RCV004217520
dbSNP Id:
rs200163984
gnomAD v4:
8-37965892-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965892G>C , CM000670.2:g.37965892G>C | GRCh38 |
| NC_000008.10:g.37823410G>C , CM000670.1:g.37823410G>C | GRCh37 |
| NC_000008.9:g.37942567G>C | NCBI36 |
| NG_011936.1:g.5775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.578C>G MANE Select | ENSP00000343782.3:p.Pro193Arg | |
| ENST00000520341.2:n.706C>G | ||
| ENST00000647937.1:c.62C>G | ENSP00000497740.1:p.Pro21Arg | |
| ENST00000345060.4:c.578C>G | ENSP00000343782.3:p.Pro193Arg | |
| ENST00000614635.1:c.578C>G | ENSP00000480325.1:p.Pro193Arg | |
| NM_000025.2:c.578C>G | NP_000016.1:p.Pro193Arg | |
| NM_000025.3:c.578C>G MANE Select | NP_000016.1:p.Pro193Arg |