Linked Data
ClinVar Variation Id:
3073691
ClinVar RCV Id:
RCV004016697
dbSNP Id:
rs1487765753
gnomAD v3:
2-188991711-C-G
gnomAD v4:
2-188991711-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991711C>G , CM000664.2:g.188991711C>G | GRCh38 |
| NC_000002.11:g.189856437C>G , CM000664.1:g.189856437C>G | GRCh37 |
| NC_000002.10:g.189564682C>G | NCBI36 |
| NG_007404.1:g.22339C>G , LRG_3:g.22339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.940C>G | ENSP00000415346.2:p.Pro314Ala | |
| ENST00000304636.9:c.940C>G MANE Select | ENSP00000304408.4:p.Pro314Ala | |
| ENST00000304636.7:c.940C>G | ENSP00000304408.3:p.Pro314Ala | |
| ENST00000317840.9:c.940C>G | ENSP00000315243.6:p.Pro314Ala | |
| ENST00000450867.1:c.38C>G | ||
| NM_000090.3:c.940C>G , LRG_3t1:c.940C>G | NP_000081.1:p.Pro314Ala | |
| NM_000090.4:c.940C>G MANE Select | NP_000081.2:p.Pro314Ala |