Linked Data
ClinVar Variation Id:
3262
ClinVar RCV Id:
RCV000003418
dbSNP Id:
rs104894661
ExAC:
18:13885199 C / T
gnomAD v2:
18-13885199-C-T
gnomAD v3:
18-13885200-C-T
gnomAD v4:
18-13885200-C-T
COSMIC:
COSM6148212
PubMed:
PMID:8636348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885200C>T , CM000680.2:g.13885200C>T | GRCh38 |
| NC_000018.9:g.13885199C>T , CM000680.1:g.13885199C>T | GRCh37 |
| NC_000018.8:g.13875199C>T | NCBI36 |
| NG_011819.1:g.35337G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.319G>A MANE Select | ENSP00000333821.2:p.Asp107Asn | |
| ENST00000327606.3:c.319G>A | ENSP00000333821.2:p.Asp107Asn | |
| ENST00000399821.2:c.319G>A | ENSP00000382718.2:p.Asp107Asn | |
| NM_000529.2:c.319G>A MANE Select | NP_000520.1:p.Asp107Asn | |
| NM_001291911.1:c.319G>A | NP_001278840.1:p.Asp107Asn | |
| XM_017025781.1:c.319G>A | XP_016881270.1:p.Asp107Asn |