Linked Data
ClinVar Variation Id:
3673
ClinVar RCV Id:
RCV000003858
dbSNP Id:
rs121908057
gnomAD v4:
16-67942731-T-C
PubMed:
PMID:8675648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942731T>C , CM000678.2:g.67942731T>C | GRCh38 |
| NC_000016.9:g.67976634T>C , CM000678.1:g.67976634T>C | GRCh37 |
| NC_000016.8:g.66534135T>C | NCBI36 |
| NG_009778.1:g.6382A>G | |
| NG_033098.1:g.30964A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.463A>G MANE Select | ENSP00000264005.5:p.Asn155Asp | |
| ENST00000264005.9:c.463A>G | ENSP00000264005.5:p.Asn155Asp | |
| ENST00000570369.5:c.155+130A>G | ||
| ENST00000570980.1:c.247A>G | ENSP00000464651.1:p.Asn83Asp | |
| ENST00000573538.5:c.106A>G | ENSP00000463220.1:p.Asn36Asp | |
| ENST00000573846.1:n.77A>G | ||
| ENST00000575277.1:n.241A>G | ||
| ENST00000575467.5:c.*158A>G | ENSP00000460653.1:n.*158A>G | |
| NM_000229.1:c.463A>G | NP_000220.1:p.Asn155Asp | |
| NM_000229.2:c.463A>G MANE Select | NP_000220.1:p.Asn155Asp |