Linked Data
ClinVar Variation Id:
3260
ClinVar RCV Id:
RCV000003416
dbSNP Id:
rs104894656
ExAC:
18:13885158 G / C
gnomAD v2:
18-13885158-G-C
gnomAD v3:
18-13885159-G-C
gnomAD v4:
18-13885159-G-C
PubMed:
PMID:8227361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885159G>C , CM000680.2:g.13885159G>C | GRCh38 |
| NC_000018.9:g.13885158G>C , CM000680.1:g.13885158G>C | GRCh37 |
| NC_000018.8:g.13875158G>C | NCBI36 |
| NG_011819.1:g.35378C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.360C>G MANE Select | ENSP00000333821.2:p.Ser120Arg | |
| ENST00000327606.3:c.360C>G | ENSP00000333821.2:p.Ser120Arg | |
| ENST00000399821.2:c.360C>G | ENSP00000382718.2:p.Ser120Arg | |
| NM_000529.2:c.360C>G MANE Select | NP_000520.1:p.Ser120Arg | |
| NM_001291911.1:c.360C>G | NP_001278840.1:p.Ser120Arg | |
| XM_017025781.1:c.360C>G | XP_016881270.1:p.Ser120Arg |