Linked Data
ClinVar Variation Id:
95057
dbSNP Id:
rs112906840
ExAC:
16:3779115 T / C
gnomAD v2:
16-3779115-T-C
gnomAD v3:
16-3729114-T-C
gnomAD v4:
16-3729114-T-C
COSMIC:
COSM96469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729114T>C , CM000678.2:g.3729114T>C | GRCh38 |
| NC_000016.9:g.3779115T>C , CM000678.1:g.3779115T>C | GRCh37 |
| NC_000016.8:g.3719116T>C | NCBI36 |
| NG_009873.1:g.156007A>G | |
| NG_009873.2:g.156600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5933A>G MANE Select | ENSP00000262367.5:p.Asn1978Ser | |
| ENST00000262367.9:c.5933A>G | ENSP00000262367.5:p.Asn1978Ser | |
| ENST00000382070.7:c.5819A>G | ENSP00000371502.3:p.Asn1940Ser | |
| NM_001079846.1:c.5819A>G | NP_001073315.1:p.Asn1940Ser | |
| NM_004380.2:c.5933A>G | NP_004371.2:p.Asn1978Ser | |
| XM_005255124.3:c.5888A>G | XP_005255181.1:p.Asn1963Ser | |
| XM_005255125.3:c.5516A>G | XP_005255182.1:p.Asn1839Ser | |
| XM_006720848.2:c.5672A>G | XP_006720911.1:p.Asn1891Ser | |
| XM_011522380.1:c.5879A>G | XP_011520682.1:p.Asn1960Ser | |
| XM_011522381.1:c.5180A>G | XP_011520683.1:p.Asn1727Ser | |
| XM_005255124.4:c.5888A>G | XP_005255181.1:p.Asn1963Ser | |
| XM_005255125.4:c.5516A>G | XP_005255182.1:p.Asn1839Ser | |
| XM_006720848.3:c.5672A>G | XP_006720911.1:p.Asn1891Ser | |
| XM_011522381.2:c.5180A>G | XP_011520683.1:p.Asn1727Ser | |
| XM_017022944.1:c.5927A>G | XP_016878433.1:p.Asn1976Ser | |
| NM_004380.3:c.5933A>G MANE Select | NP_004371.2:p.Asn1978Ser |