Linked Data
ClinVar Variation Id:
933266
dbSNP Id:
rs143285077
ExAC:
19:33350808 T / C
gnomAD v2:
19-33350808-T-C
gnomAD v3:
19-32859902-T-C
gnomAD v4:
19-32859902-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32859902T>C , CM000681.2:g.32859902T>C | GRCh38 |
| NC_000019.9:g.33350808T>C , CM000681.1:g.33350808T>C | GRCh37 |
| NC_000019.8:g.38042648T>C | NCBI36 |
| NG_008258.1:g.14876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.812A>G MANE Select | ENSP00000023064.3:p.Asn271Ser | |
| ENST00000023064.8:c.812A>G | ENSP00000023064.3:p.Asn271Ser | |
| ENST00000587772.1:c.812A>G | ENSP00000468439.1:p.Asn271Ser | |
| ENST00000589659.1:n.757A>G | ||
| ENST00000590341.5:c.812A>G | ENSP00000464822.1:p.Asn271Ser | |
| ENST00000590465.5:c.*959A>G | ENSP00000468076.1:n.*959A>G | |
| ENST00000592232.5:c.*318A>G | ENSP00000465563.1:n.*318A>G | |
| NM_001126335.1:c.812A>G | NP_001119807.1:p.Asn271Ser | |
| NM_001243036.1:c.812A>G | NP_001229965.1:p.Asn271Ser | |
| NM_014270.4:c.812A>G | NP_055085.1:p.Asn271Ser | |
| XM_006722992.1:c.131A>G | XP_006723055.1:p.Asn44Ser | |
| XM_011526402.1:c.812A>G | XP_011524704.1:p.Asn271Ser | |
| XM_011526402.3:c.812A>G | XP_011524704.1:p.Asn271Ser | |
| XM_017026230.1:c.548A>G | XP_016881719.1:p.Asn183Ser | |
| XM_024451334.1:c.185A>G | XP_024307102.1:p.Asn62Ser | |
| NM_014270.5:c.812A>G MANE Select | NP_055085.1:p.Asn271Ser | |
| NM_001126335.2:c.812A>G | NP_001119807.1:p.Asn271Ser | |
| NM_001243036.2:c.812A>G | NP_001229965.1:p.Asn271Ser |