Linked Data
ClinVar Variation Id:
16864
dbSNP Id:
rs1800435
ExAC:
9:116153891 C / G
gnomAD v2:
9-116153891-C-G
gnomAD v3:
9-113391611-C-G
gnomAD v4:
9-113391611-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113391611C>G , CM000671.2:g.113391611C>G | GRCh38 |
| NC_000009.11:g.116153891C>G , CM000671.1:g.116153891C>G | GRCh37 |
| NC_000009.10:g.115193712C>G | NCBI36 |
| NG_008716.1:g.14728G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.177G>C MANE Select | ENSP00000386284.3:p.Lys59Asn | |
| ENST00000409155.7:c.177G>C | ENSP00000386284.3:p.Lys59Asn | |
| ENST00000448137.5:c.204G>C | ENSP00000392748.1:p.Lys68Asn | |
| ENST00000464749.5:n.258-678G>C | ||
| ENST00000468504.5:n.299G>C | ||
| ENST00000482001.1:n.450G>C | ||
| ENST00000482847.5:n.450G>C | ||
| NM_000031.5:c.177G>C | NP_000022.3:p.Lys59Asn | |
| XM_005251799.1:c.264G>C | XP_005251856.1:p.Lys88Asn | |
| XM_011518363.1:c.303G>C | XP_011516665.1:p.Lys101Asn | |
| XM_011518364.1:c.204G>C | XP_011516666.1:p.Lys68Asn | |
| NM_001003945.2:c.264G>C | NP_001003945.1:p.Lys88Asn | |
| NM_001317745.1:c.153G>C | NP_001304674.1:p.Lys51Asn | |
| XM_011518364.2:c.204G>C | XP_011516666.1:p.Lys68Asn | |
| XM_024447449.1:c.264G>C | XP_024303217.1:p.Lys88Asn | |
| XR_002956764.1:n.677G>C | ||
| NM_000031.6:c.177G>C MANE Select | NP_000022.3:p.Lys59Asn | |
| NM_001003945.3:c.264G>C | NP_001003945.1:p.Lys88Asn | |
| NM_001317745.2:c.153G>C | NP_001304674.1:p.Lys51Asn |