Linked Data
ClinVar Variation Id:
2683629
ClinVar RCV Id:
RCV003480449
dbSNP Id:
rs1314520034
gnomAD v2:
16-88901654-T-A
gnomAD v3:
16-88835246-T-A
gnomAD v4:
16-88835246-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88835246T>A , CM000678.2:g.88835246T>A | GRCh38 |
| NC_000016.9:g.88901654T>A , CM000678.1:g.88901654T>A | GRCh37 |
| NC_000016.8:g.87429155T>A | NCBI36 |
| NG_008667.1:g.26721A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.865A>T MANE Select | ENSP00000268695.5:p.Asn289Tyr | |
| ENST00000268695.9:c.865A>T | ENSP00000268695.5:p.Asn289Tyr | |
| ENST00000562593.5:n.4274A>T | ||
| ENST00000562931.5:n.453A>T | ||
| ENST00000567525.5:c.546A>T | ENSP00000454484.1:n.546A>T | |
| ENST00000568613.5:c.984A>T | ENSP00000457921.1:n.984A>T | |
| NM_000512.4:c.865A>T | NP_000503.1:p.Asn289Tyr | |
| XM_005256301.2:c.865A>T | XP_005256358.1:p.Asn289Tyr | |
| XM_005256302.1:c.883A>T | XP_005256359.1:p.Asn295Tyr | |
| XM_011522982.1:c.883A>T | XP_011521284.1:p.Asn295Tyr | |
| XM_011522984.1:c.883A>T | XP_011521286.1:p.Asn295Tyr | |
| NM_001323543.1:c.310A>T | NP_001310472.1:p.Asn104Tyr | |
| NM_001323544.1:c.883A>T | NP_001310473.1:p.Asn295Tyr | |
| XM_005256301.3:c.865A>T | XP_005256358.1:p.Asn289Tyr | |
| XM_011522982.2:c.883A>T | XP_011521284.1:p.Asn295Tyr | |
| XM_017023111.2:c.883A>T | XP_016878600.1:p.Asn295Tyr | |
| XM_017023112.2:c.883A>T | XP_016878601.1:p.Asn295Tyr | |
| XM_017023113.1:c.310A>T | XP_016878602.1:p.Asn104Tyr | |
| NM_000512.5:c.865A>T MANE Select | NP_000503.1:p.Asn289Tyr | |
| NM_001323543.2:c.310A>T | NP_001310472.1:p.Asn104Tyr | |
| NM_001323544.2:c.883A>T | NP_001310473.1:p.Asn295Tyr |