Linked Data
ClinVar Variation Id:
465317
dbSNP Id:
rs78178397
ExAC:
16:1574794 A / G
gnomAD v2:
16-1574794-A-G
gnomAD v3:
16-1524793-A-G
gnomAD v4:
16-1524793-A-G
MyVariant Identifiers:
chr16:g.1574794A>G (hg19)
chr16:g.1574794_1574795delinsGT (hg19)
chr16:g.1524793A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1524793A>G , CM000678.2:g.1524793A>G | GRCh38 |
| NC_000016.9:g.1574794A>G , CM000678.1:g.1574794A>G | GRCh37 |
| NC_000016.8:g.1514795A>G | NCBI36 |
| NG_032783.1:g.92316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.2988T>C MANE Select | ENSP00000406012.2:p.Asn996= | |
| ENST00000361339.9:c.570T>C | ENSP00000354895.5:p.Asn190= | |
| ENST00000397417.6:c.*1426T>C | ENSP00000380562.2:n.*1426T>C | |
| ENST00000426508.6:c.2988T>C | ENSP00000406012.2:p.Asn996= | |
| ENST00000565298.5:n.2217T>C | ||
| ENST00000566818.1:n.703T>C | ||
| NM_014714.3:c.2988T>C | NP_055529.2:p.Asn996= | |
| XM_006720989.2:c.2988T>C | XP_006721052.1:p.Asn996= | |
| XM_006720990.2:c.2988T>C | XP_006721053.1:p.Asn996= | |
| XM_006720991.2:c.2988T>C | XP_006721054.1:p.Asn996= | |
| XM_006720992.2:c.621T>C | XP_006721055.1:p.Asn207= | |
| XM_011522766.1:c.2742T>C | XP_011521068.1:p.Asn914= | |
| XM_011522767.1:c.2013T>C | XP_011521069.1:p.Asn671= | |
| XM_006720990.3:c.2988T>C | XP_006721053.1:p.Asn996= | |
| XM_006720991.3:c.2988T>C | XP_006721054.1:p.Asn996= | |
| XM_006720992.3:c.621T>C | XP_006721055.1:p.Asn207= | |
| XM_011522766.3:c.2742T>C | XP_011521068.1:p.Asn914= | |
| XM_011522767.2:c.2013T>C | XP_011521069.1:p.Asn671= | |
| XM_017023910.1:c.2988T>C | XP_016879399.1:p.Asn996= | |
| XM_017023911.1:c.1173T>C | XP_016879400.1:p.Asn391= | |
| NM_014714.4:c.2988T>C MANE Select | NP_055529.2:p.Asn996= |