Linked Data
ClinVar Variation Id:
48143
dbSNP Id:
rs397517930
ExAC:
3:150690354 T / C
gnomAD v2:
3-150690354-T-C
gnomAD v3:
3-150972567-T-C
gnomAD v4:
3-150972567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972567T>C , CM000665.2:g.150972567T>C | GRCh38 |
| NC_000003.11:g.150690354T>C , CM000665.1:g.150690354T>C | GRCh37 |
| NC_000003.10:g.152173044T>C | NCBI36 |
| NG_009168.1:g.5433A>G , LRG_700:g.5433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.142A>G MANE Select | ENSP00000322280.1:p.Asn48Asp | |
| ENST00000468836.2:c.118A>G | ENSP00000419892.2:p.Asn40Asp | |
| ENST00000327047.5:c.142A>G | ENSP00000322280.1:p.Asn48Asp | |
| ENST00000328863.8:c.142A>G | ENSP00000329158.4:p.Asn48Asp | |
| ENST00000468836.1:c.-259A>G | ENSP00000419892.1:n.-259A>G | |
| ENST00000472224.1:n.148A>G | ||
| NM_001195794.1:c.142A>G , LRG_700t1:c.142A>G | NP_001182723.1:p.Asn48Asp | |
| NM_001256819.1:c.142A>G | NP_001243748.1:p.Asn48Asp | |
| NM_174878.2:c.142A>G | NP_777367.1:p.Asn48Asp | |
| NR_046380.2:n.433A>G | ||
| XR_924167.1:n.454A>G | ||
| NM_001256819.2:c.142A>G | NP_001243748.1:p.Asn48Asp | |
| NM_174878.3:c.142A>G MANE Select | NP_777367.1:p.Asn48Asp | |
| NR_046380.3:n.161A>G |