Linked Data
ClinVar Variation Id:
208912
ClinVar RCV Id:
RCV000201352
dbSNP Id:
rs117361485
ExAC:
19:40222060 A / C
gnomAD v2:
19-40222060-A-C
gnomAD v3:
19-39731420-A-C
gnomAD v4:
19-39731420-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39731420A>C , CM000681.2:g.39731420A>C | GRCh38 |
| NC_000019.9:g.40222060A>C , CM000681.1:g.40222060A>C | GRCh37 |
| NC_000019.8:g.44913900A>C | NCBI36 |
| NG_046978.1:g.11610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221804.5:c.389T>G MANE Select | ENSP00000221804.3:p.Ile130Ser | |
| ENST00000221804.4:c.389T>G | ENSP00000221804.3:p.Ile130Ser | |
| NM_001828.5:c.389T>G | NP_001819.2:p.Ile130Ser | |
| NM_001828.6:c.389T>G MANE Select | NP_001819.2:p.Ile130Ser |