Linked Data
ClinVar Variation Id:
31012
dbSNP Id:
rs267607353
ExAC:
12:6125363 A / C
gnomAD v2:
12-6125363-A-C
gnomAD v3:
12-6016197-A-C
gnomAD v4:
12-6016197-A-C
PubMed:
PMID:19687512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016197A>C , CM000674.2:g.6016197A>C | GRCh38 |
| NC_000012.11:g.6125363A>C , CM000674.1:g.6125363A>C | GRCh37 |
| NC_000012.10:g.5995624A>C | NCBI36 |
| NG_009072.1:g.113474T>G | |
| NG_009072.2:g.113474T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.5347T>G MANE Select | ENSP00000261405.5:p.Ser1783Ala | |
| ENST00000261405.9:c.5347T>G | ENSP00000261405.5:p.Ser1783Ala | |
| ENST00000538635.5:n.421-22263T>G | ||
| NM_000552.3:c.5347T>G | NP_000543.2:p.Ser1783Ala | |
| NM_000552.4:c.5347T>G | NP_000543.2:p.Ser1783Ala | |
| NM_000552.5:c.5347T>G MANE Select | NP_000543.3:p.Ser1783Ala |