Linked Data
ClinVar Variation Id:
208254
dbSNP Id:
rs864621977
gnomAD v4:
19-12664832-G-C
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12664832G>C , CM000681.2:g.12664832G>C | GRCh38 |
| NC_000019.9:g.12775646G>C , CM000681.1:g.12775646G>C | GRCh37 |
| NC_000019.8:g.12636646G>C | NCBI36 |
| NG_008318.1:g.6946C>G | |
| NG_015814.1:g.3029G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.590C>G MANE Select | ENSP00000395473.2:p.Pro197Arg | |
| ENST00000221363.8:c.590C>G | ENSP00000221363.4:p.Pro197Arg | |
| ENST00000456935.6:c.590C>G | ENSP00000395473.2:p.Pro197Arg | |
| ENST00000466794.5:n.572C>G | ||
| ENST00000486847.2:c.333+520C>G | ENSP00000470174.1:n.333+520C>G | |
| ENST00000596512.5:n.528C>G | ||
| ENST00000597961.1:c.581C>G | ENSP00000472710.1:p.Pro194Arg | |
| NM_000528.3:c.590C>G | NP_000519.2:p.Pro197Arg | |
| NM_001173498.1:c.590C>G | NP_001166969.1:p.Pro197Arg | |
| XM_005259913.1:c.590C>G | XP_005259970.1:p.Pro197Arg | |
| XM_005259913.2:c.590C>G | XP_005259970.1:p.Pro197Arg | |
| XM_024451518.1:c.-429C>G | XP_024307286.1:n.-429C>G | |
| NM_000528.4:c.590C>G MANE Select | NP_000519.2:p.Pro197Arg | |
| NM_001173498.2:c.590C>G | NP_001166969.1:p.Pro197Arg |