Linked Data
dbSNP Id:
rs759810753
ExAC:
3:14190210 T / A
gnomAD v2:
3-14190210-T-A
gnomAD v4:
3-14148710-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148710T>A , CM000665.2:g.14148710T>A | GRCh38 |
| NC_000003.11:g.14190210T>A , CM000665.1:g.14190210T>A | GRCh37 |
| NC_000003.10:g.14165211T>A | NCBI36 |
| NG_011763.1:g.34963A>T , LRG_472:g.34963A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2272A>T MANE Select | ENSP00000285021.8:p.Asn758Tyr | |
| ENST00000285021.11:c.2272A>T | ENSP00000285021.7:p.Asn758Tyr | |
| ENST00000427795.2:n.137A>T | ||
| ENST00000476581.6:c.*1725A>T | ENSP00000424548.1:n.*1725A>T | |
| NM_004628.4:c.2272A>T , LRG_472t1:c.2272A>T | NP_004619.3:p.Asn758Tyr | |
| NR_027299.1:n.2252A>T | ||
| XM_011534092.1:c.2272A>T | XP_011532394.1:p.Asn758Tyr | |
| NM_001354726.1:c.1693A>T | NP_001341655.1:p.Asn565Tyr | |
| NM_001354727.1:c.2266A>T | NP_001341656.1:p.Asn756Tyr | |
| NM_001354729.1:c.2254A>T | NP_001341658.1:p.Asn752Tyr | |
| NM_001354730.1:c.2026A>T | NP_001341659.1:p.Asn676Tyr | |
| NR_148950.1:n.2215A>T | ||
| NR_148951.1:n.2091A>T | ||
| XR_001740256.2:n.2305A>T | ||
| XR_002959580.1:n.2305A>T | ||
| XR_002959581.1:n.3922A>T | ||
| NM_001354727.2:c.2266A>T | NP_001341656.1:p.Asn756Tyr | |
| NM_004628.5:c.2272A>T MANE Select | NP_004619.3:p.Asn758Tyr | |
| NR_148950.2:n.2144A>T | ||
| NR_148951.2:n.2020A>T | ||
| NM_001354726.2:c.1693A>T | NP_001341655.1:p.Asn565Tyr | |
| NM_001354729.2:c.2254A>T | NP_001341658.1:p.Asn752Tyr | |
| NM_001354730.2:c.2026A>T | NP_001341659.1:p.Asn676Tyr |