Linked Data
ClinVar Variation Id:
17604
ClinVar RCV Id:
RCV000019170
dbSNP Id:
rs267606695
gnomAD v4:
8-60266044-A-G
PubMed:
PMID:19461874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60266044A>G , CM000670.2:g.60266044A>G | GRCh38 |
| NC_000008.10:g.61178603A>G , CM000670.1:g.61178603A>G | GRCh37 |
| NC_000008.9:g.61341157A>G | NCBI36 |
| NG_023193.1:g.20352T>C | |
| NG_023193.2:g.20352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317995.5:c.298T>C MANE Select | ENSP00000314407.4:p.Ser100Pro | |
| ENST00000317995.4:c.298T>C | ENSP00000314407.4:p.Ser100Pro | |
| ENST00000524872.5:n.536T>C | ||
| ENST00000529918.1:n.475T>C | ||
| NM_004056.4:c.298T>C | NP_004047.3:p.Ser100Pro | |
| XM_011517585.1:c.298T>C | XP_011515887.1:p.Ser100Pro | |
| XM_011517586.1:c.298T>C | XP_011515888.1:p.Ser100Pro | |
| XM_011517587.1:c.298T>C | XP_011515889.1:p.Ser100Pro | |
| XM_011517588.1:c.298T>C | XP_011515890.1:p.Ser100Pro | |
| NM_001321837.1:c.298T>C | NP_001308766.1:p.Ser100Pro | |
| NM_001321838.1:c.298T>C | NP_001308767.1:p.Ser100Pro | |
| NM_001321839.1:c.298T>C | NP_001308768.1:p.Ser100Pro | |
| NM_004056.5:c.298T>C | NP_004047.3:p.Ser100Pro | |
| NR_135821.1:n.574T>C | ||
| XM_011517587.2:c.298T>C | XP_011515889.1:p.Ser100Pro | |
| XM_011517588.3:c.298T>C | XP_011515890.1:p.Ser100Pro | |
| XM_017013818.1:c.46T>C | XP_016869307.1:p.Ser16Pro | |
| NM_004056.6:c.298T>C MANE Select | NP_004047.3:p.Ser100Pro | |
| NM_001321837.2:c.298T>C | NP_001308766.1:p.Ser100Pro | |
| NM_001321838.2:c.298T>C | NP_001308767.1:p.Ser100Pro | |
| NM_001321839.2:c.298T>C | NP_001308768.1:p.Ser100Pro | |
| NR_135821.2:n.551T>C |