Linked Data
ClinVar Variation Id:
376536
dbSNP Id:
rs775623976
gnomAD v2:
2-198267484-G-C
gnomAD v3:
2-197402760-G-C
gnomAD v4:
2-197402760-G-C
COSMIC:
COSM1169490
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402760G>C , CM000664.2:g.197402760G>C | GRCh38 |
| NC_000002.11:g.198267484G>C , CM000664.1:g.198267484G>C | GRCh37 |
| NC_000002.10:g.197975729G>C | NCBI36 |
| NG_032903.2:g.37288C>G , LRG_624:g.37288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.1873C>G MANE Select | ENSP00000335321.6:p.Arg625Gly | |
| ENST00000470268.2:n.3757C>G | ||
| ENST00000652026.1:c.*2940C>G | ENSP00000498652.1:n.*2940C>G | |
| ENST00000652738.1:c.*2132C>G | ENSP00000499119.1:n.*2132C>G | |
| ENST00000335508.10:c.1873C>G | ENSP00000335321.5:p.Arg625Gly | |
| NM_012433.2:c.1873C>G | NP_036565.2:p.Arg625Gly | |
| NM_012433.3:c.1873C>G , LRG_624t2:c.1873C>G | NP_036565.2:p.Arg625Gly | |
| XM_011510867.1:c.1435C>G | XP_011509169.1:p.Arg479Gly | |
| XM_011510868.1:c.1435C>G | XP_011509170.1:p.Arg479Gly | |
| XR_241300.2:n.1965C>G | ||
| XR_001738680.2:n.1918C>G | ||
| NM_012433.4:c.1873C>G MANE Select | NP_036565.2:p.Arg625Gly |