Linked Data
ClinVar Variation Id:
2883814
ClinVar RCV Id:
RCV003602845
dbSNP Id:
rs372876057
ExAC:
8:118819538 T / C
gnomAD v2:
8-118819538-T-C
gnomAD v3:
8-117807299-T-C
gnomAD v4:
8-117807299-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807299T>C , CM000670.2:g.117807299T>C | GRCh38 |
| NC_000008.10:g.118819538T>C , CM000670.1:g.118819538T>C | GRCh37 |
| NC_000008.9:g.118888719T>C | NCBI36 |
| NG_007455.2:g.309521A>G , LRG_493:g.309521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1268A>G | ||
| ENST00000378204.7:c.1801A>G MANE Select | ENSP00000367446.3:p.Asn601Asp | |
| ENST00000378204.6:c.1801A>G | ENSP00000367446.2:p.Asn601Asp | |
| ENST00000437196.1:c.*692A>G | ENSP00000407299.1:n.*692A>G | |
| NM_000127.2:c.1801A>G , LRG_493t1:c.1801A>G | NP_000118.2:p.Asn601Asp | |
| NM_000127.3:c.1801A>G MANE Select | NP_000118.2:p.Asn601Asp |