Linked Data
ClinVar Variation Id:
2633157
dbSNP Id:
rs754282387
ExAC:
16:3779114 G / C
gnomAD v2:
16-3779114-G-C
gnomAD v4:
16-3729113-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729113G>C , CM000678.2:g.3729113G>C | GRCh38 |
| NC_000016.9:g.3779114G>C , CM000678.1:g.3779114G>C | GRCh37 |
| NC_000016.8:g.3719115G>C | NCBI36 |
| NG_009873.1:g.156008C>G | |
| NG_009873.2:g.156601C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5934C>G MANE Select | ENSP00000262367.5:p.Asn1978Lys | |
| ENST00000262367.9:c.5934C>G | ENSP00000262367.5:p.Asn1978Lys | |
| ENST00000382070.7:c.5820C>G | ENSP00000371502.3:p.Asn1940Lys | |
| NM_001079846.1:c.5820C>G | NP_001073315.1:p.Asn1940Lys | |
| NM_004380.2:c.5934C>G | NP_004371.2:p.Asn1978Lys | |
| XM_005255124.3:c.5889C>G | XP_005255181.1:p.Asn1963Lys | |
| XM_005255125.3:c.5517C>G | XP_005255182.1:p.Asn1839Lys | |
| XM_006720848.2:c.5673C>G | XP_006720911.1:p.Asn1891Lys | |
| XM_011522380.1:c.5880C>G | XP_011520682.1:p.Asn1960Lys | |
| XM_011522381.1:c.5181C>G | XP_011520683.1:p.Asn1727Lys | |
| XM_005255124.4:c.5889C>G | XP_005255181.1:p.Asn1963Lys | |
| XM_005255125.4:c.5517C>G | XP_005255182.1:p.Asn1839Lys | |
| XM_006720848.3:c.5673C>G | XP_006720911.1:p.Asn1891Lys | |
| XM_011522381.2:c.5181C>G | XP_011520683.1:p.Asn1727Lys | |
| XM_017022944.1:c.5928C>G | XP_016878433.1:p.Asn1976Lys | |
| NM_004380.3:c.5934C>G MANE Select | NP_004371.2:p.Asn1978Lys |