Linked Data
ClinVar Variation Id:
321907
dbSNP Id:
rs200389505
ExAC:
17:1580974 C / G
gnomAD v2:
17-1580974-C-G
gnomAD v3:
17-1677680-C-G
gnomAD v4:
17-1677680-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1677680C>G , CM000679.2:g.1677680C>G | GRCh38 |
| NC_000017.10:g.1580974C>G , CM000679.1:g.1580974C>G | GRCh37 |
| NC_000017.9:g.1527724C>G | NCBI36 |
| NG_009118.1:g.12203G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.1869G>C | ENSP00000460849.2:p.Lys623Asn | |
| ENST00000703538.1:c.*1592G>C | ENSP00000515361.1:n.*1592G>C | |
| ENST00000703540.1:c.1869G>C | ENSP00000515362.1:p.Lys623Asn | |
| ENST00000703541.1:c.1734G>C | ENSP00000515363.1:p.Lys578Asn | |
| ENST00000304992.11:c.1869G>C MANE Select | ENSP00000304350.6:p.Lys623Asn | |
| ENST00000304992.10:c.1869G>C | ENSP00000304350.6:p.Lys623Asn | |
| ENST00000572621.5:c.1869G>C | ENSP00000460348.1:p.Lys623Asn | |
| ENST00000577001.1:c.1704G>C | ENSP00000458151.1:p.Lys568Asn | |
| NM_006445.3:c.1869G>C | NP_006436.3:p.Lys623Asn | |
| XM_024450537.1:c.1869G>C | XP_024306305.1:p.Lys623Asn | |
| NM_006445.4:c.1869G>C MANE Select | NP_006436.3:p.Lys623Asn |