Linked Data
ClinVar Variation Id:
300054
dbSNP Id:
rs760694729
ExAC:
10:50679095 T / C
gnomAD v2:
10-50679095-T-C
gnomAD v3:
10-49471049-T-C
gnomAD v4:
10-49471049-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471049T>C , CM000672.2:g.49471049T>C | GRCh38 |
| NC_000010.10:g.50679095T>C , CM000672.1:g.50679095T>C | GRCh37 |
| NC_000010.9:g.50349101T>C | NCBI36 |
| NG_009442.1:g.73053A>G , LRG_465:g.73053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2996A>G MANE Select | ENSP00000348089.5:p.Asn999Ser | |
| ENST00000679552.1:n.142-160A>G | ||
| ENST00000679871.1:n.142A>G | ||
| ENST00000679974.1:n.120-160A>G | ||
| ENST00000681632.1:n.4399A>G | ||
| ENST00000681659.1:c.2837A>G | ENSP00000505631.1:p.Asn946Ser | |
| ENST00000355832.9:c.2996A>G | ENSP00000348089.5:p.Asn999Ser | |
| ENST00000623073.3:c.*1292A>G | ENSP00000485650.1:n.*1292A>G | |
| ENST00000623115.3:c.1106A>G | ENSP00000485321.1:p.Asn369Ser | |
| ENST00000624341.3:c.828A>G | ||
| NM_000124.3:c.2996A>G | NP_000115.1:p.Asn999Ser | |
| XR_945953.1:n.243-516T>C | ||
| NM_001346440.1:c.2996A>G | NP_001333369.1:p.Asn999Ser | |
| NM_000124.4:c.2996A>G MANE Select | NP_000115.1:p.Asn999Ser | |
| NM_001346440.2:c.2996A>G | NP_001333369.1:p.Asn999Ser |