Linked Data
dbSNP Id:
rs781326758
ExAC:
3:14190144 G / A
gnomAD v2:
3-14190144-G-A
gnomAD v4:
3-14148644-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148644G>A , CM000665.2:g.14148644G>A | GRCh38 |
| NC_000003.11:g.14190144G>A , CM000665.1:g.14190144G>A | GRCh37 |
| NC_000003.10:g.14165145G>A | NCBI36 |
| NG_011763.1:g.35029C>T , LRG_472:g.35029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2338C>T MANE Select | ENSP00000285021.8:p.His780Tyr | |
| ENST00000285021.11:c.2338C>T | ENSP00000285021.7:p.His780Tyr | |
| ENST00000427795.2:n.203C>T | ||
| ENST00000476581.6:c.*1791C>T | ENSP00000424548.1:n.*1791C>T | |
| NM_004628.4:c.2338C>T , LRG_472t1:c.2338C>T | NP_004619.3:p.His780Tyr | |
| NR_027299.1:n.2318C>T | ||
| XM_011534092.1:c.2338C>T | XP_011532394.1:p.His780Tyr | |
| NM_001354726.1:c.1759C>T | NP_001341655.1:p.His587Tyr | |
| NM_001354727.1:c.2332C>T | NP_001341656.1:p.His778Tyr | |
| NM_001354729.1:c.2320C>T | NP_001341658.1:p.His774Tyr | |
| NM_001354730.1:c.2092C>T | NP_001341659.1:p.His698Tyr | |
| NR_148950.1:n.2281C>T | ||
| NR_148951.1:n.2157C>T | ||
| XR_001740256.2:n.2371C>T | ||
| XR_002959580.1:n.2371C>T | ||
| XR_002959581.1:n.3988C>T | ||
| NM_001354727.2:c.2332C>T | NP_001341656.1:p.His778Tyr | |
| NM_004628.5:c.2338C>T MANE Select | NP_004619.3:p.His780Tyr | |
| NR_148950.2:n.2210C>T | ||
| NR_148951.2:n.2086C>T | ||
| NM_001354726.2:c.1759C>T | NP_001341655.1:p.His587Tyr | |
| NM_001354729.2:c.2320C>T | NP_001341658.1:p.His774Tyr | |
| NM_001354730.2:c.2092C>T | NP_001341659.1:p.His698Tyr |