Linked Data
ClinVar Variation Id:
1688
ClinVar RCV Id:
RCV000001756
dbSNP Id:
rs121434333
gnomAD v3:
19-12658470-G-C
gnomAD v4:
19-12658470-G-C
PubMed:
PMID:9758606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658470G>C , CM000681.2:g.12658470G>C | GRCh38 |
| NC_000019.9:g.12769284G>C , CM000681.1:g.12769284G>C | GRCh37 |
| NC_000019.8:g.12630284G>C | NCBI36 |
| NG_008318.1:g.13308C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1067C>G MANE Select | ENSP00000395473.2:p.Pro356Arg | |
| ENST00000221363.8:c.1064C>G | ENSP00000221363.4:p.Pro355Arg | |
| ENST00000456935.6:c.1067C>G | ENSP00000395473.2:p.Pro356Arg | |
| ENST00000465830.1:n.148C>G | ||
| ENST00000466794.5:n.1009-126C>G | ||
| ENST00000495617.1:n.280+261C>G | ||
| NM_000528.3:c.1067C>G | NP_000519.2:p.Pro356Arg | |
| NM_001173498.1:c.1064C>G | NP_001166969.1:p.Pro355Arg | |
| XM_005259913.1:c.1070C>G | XP_005259970.1:p.Pro357Arg | |
| XM_011528017.1:c.9-126C>G | XP_011526319.1:n.9-126C>G | |
| XM_005259913.2:c.1070C>G | XP_005259970.1:p.Pro357Arg | |
| XM_024451518.1:c.9-126C>G | XP_024307286.1:n.9-126C>G | |
| NM_000528.4:c.1067C>G MANE Select | NP_000519.2:p.Pro356Arg | |
| NM_001173498.2:c.1064C>G | NP_001166969.1:p.Pro355Arg |