Linked Data
ClinVar Variation Id:
450715
dbSNP Id:
rs745528502
ExAC:
5:127704925 G / C
gnomAD v2:
5-127704925-G-C
gnomAD v4:
5-128369232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128369232G>C , CM000667.2:g.128369232G>C | GRCh38 |
| NC_000005.9:g.127704925G>C , CM000667.1:g.127704925G>C | GRCh37 |
| NC_000005.8:g.127732824G>C | NCBI36 |
| NG_008750.1:g.173811C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2198C>G MANE Select | ENSP00000262464.4:p.Pro733Arg | |
| ENST00000262464.8:c.2198C>G | ENSP00000262464.4:p.Pro733Arg | |
| ENST00000508053.5:c.2198C>G | ENSP00000424571.1:p.Pro733Arg | |
| ENST00000508989.5:c.2099C>G | ENSP00000425596.1:p.Pro700Arg | |
| ENST00000511489.1:n.419C>G | ||
| ENST00000619499.4:c.2195C>G | ENSP00000482132.1:p.Pro732Arg | |
| NM_001999.3:c.2198C>G | NP_001990.2:p.Pro733Arg | |
| XM_017009228.2:c.2045C>G | XP_016864717.1:p.Pro682Arg | |
| NM_001999.4:c.2198C>G MANE Select | NP_001990.2:p.Pro733Arg |