Linked Data
ClinVar Variation Id:
95059
dbSNP Id:
rs200998860
ExAC:
16:3779045 A / G
gnomAD v2:
16-3779045-A-G
gnomAD v3:
16-3729044-A-G
gnomAD v4:
16-3729044-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729044A>G , CM000678.2:g.3729044A>G | GRCh38 |
| NC_000016.9:g.3779045A>G , CM000678.1:g.3779045A>G | GRCh37 |
| NC_000016.8:g.3719046A>G | NCBI36 |
| NG_009873.1:g.156077T>C | |
| NG_009873.2:g.156670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6003T>C MANE Select | ENSP00000262367.5:p.Asn2001= | |
| ENST00000262367.9:c.6003T>C | ENSP00000262367.5:p.Asn2001= | |
| ENST00000382070.7:c.5889T>C | ENSP00000371502.3:p.Asn1963= | |
| NM_001079846.1:c.5889T>C | NP_001073315.1:p.Asn1963= | |
| NM_004380.2:c.6003T>C | NP_004371.2:p.Asn2001= | |
| XM_005255124.3:c.5958T>C | XP_005255181.1:p.Asn1986= | |
| XM_005255125.3:c.5586T>C | XP_005255182.1:p.Asn1862= | |
| XM_006720848.2:c.5742T>C | XP_006720911.1:p.Asn1914= | |
| XM_011522380.1:c.5949T>C | XP_011520682.1:p.Asn1983= | |
| XM_011522381.1:c.5250T>C | XP_011520683.1:p.Asn1750= | |
| XM_005255124.4:c.5958T>C | XP_005255181.1:p.Asn1986= | |
| XM_005255125.4:c.5586T>C | XP_005255182.1:p.Asn1862= | |
| XM_006720848.3:c.5742T>C | XP_006720911.1:p.Asn1914= | |
| XM_011522381.2:c.5250T>C | XP_011520683.1:p.Asn1750= | |
| XM_017022944.1:c.5997T>C | XP_016878433.1:p.Asn1999= | |
| NM_004380.3:c.6003T>C MANE Select | NP_004371.2:p.Asn2001= |