Linked Data
dbSNP Id:
rs3740996
ExAC:
11:5701281 G / A
gnomAD v2:
11-5701281-G-A
gnomAD v3:
11-5680051-G-A
gnomAD v4:
11-5680051-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5680051G>A , CM000673.2:g.5680051G>A | GRCh38 |
| NC_000011.9:g.5701281G>A , CM000673.1:g.5701281G>A | GRCh37 |
| NC_000011.8:g.5657857G>A | NCBI36 |
| NG_029122.1:g.10059C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682968.1:c.127C>T | ENSP00000506742.1:p.His43Tyr | |
| ENST00000684417.1:n.365C>T | ||
| ENST00000684655.1:c.127C>T | ENSP00000507420.1:p.His43Tyr | |
| ENST00000380034.8:c.127C>T MANE Select | ENSP00000369373.3:p.His43Tyr | |
| ENST00000380027.5:c.127C>T | ENSP00000369366.1:p.His43Tyr | |
| ENST00000380034.7:c.127C>T | ENSP00000369373.3:p.His43Tyr | |
| ENST00000396847.7:c.127C>T | ENSP00000380058.3:p.His43Tyr | |
| ENST00000412903.1:c.127C>T | ENSP00000388031.1:p.His43Tyr | |
| ENST00000419850.1:c.127C>T | ENSP00000388150.1:p.His43Tyr | |
| ENST00000433961.5:c.127C>T | ENSP00000393052.1:p.His43Tyr | |
| NM_033034.2:c.127C>T | NP_149023.2:p.His43Tyr | |
| NM_033092.2:c.127C>T | NP_149083.2:p.His43Tyr | |
| NM_033093.2:c.127C>T | NP_149084.2:p.His43Tyr | |
| XM_005253183.1:c.127C>T | XP_005253240.1:p.His43Tyr | |
| XM_005253184.1:c.127C>T | XP_005253241.1:p.His43Tyr | |
| XM_006718358.1:c.127C>T | XP_006718421.1:p.His43Tyr | |
| XM_011520424.1:c.127C>T | XP_011518726.1:p.His43Tyr | |
| XM_011520425.1:c.127C>T | XP_011518727.1:p.His43Tyr | |
| XM_011520426.1:c.127C>T | XP_011518728.1:p.His43Tyr | |
| XM_011520427.1:c.127C>T | XP_011518729.1:p.His43Tyr | |
| XR_930919.1:n.416C>T | ||
| XR_930920.1:n.416C>T | ||
| XR_930921.1:n.416C>T | ||
| XM_005253183.3:c.127C>T | XP_005253240.1:p.His43Tyr | |
| XM_005253184.3:c.127C>T | XP_005253241.1:p.His43Tyr | |
| XM_006718358.3:c.127C>T | XP_006718421.1:p.His43Tyr | |
| XM_011520426.3:c.127C>T | XP_011518728.1:p.His43Tyr | |
| XM_011520427.2:c.127C>T | XP_011518729.1:p.His43Tyr | |
| XM_017018460.2:c.127C>T | XP_016873949.1:p.His43Tyr | |
| XM_017018461.2:c.127C>T | XP_016873950.1:p.His43Tyr | |
| XM_017018462.2:c.127C>T | XP_016873951.1:p.His43Tyr | |
| XM_017018463.2:c.127C>T | XP_016873952.1:p.His43Tyr | |
| XR_001748014.2:n.405C>T | ||
| XR_001748015.2:n.405C>T | ||
| XR_001748016.2:n.281C>T | ||
| XR_001748017.2:n.405C>T | ||
| XR_001748018.2:n.405C>T | ||
| XR_930920.3:n.405C>T | ||
| XR_930921.2:n.405C>T | ||
| NM_033034.3:c.127C>T MANE Select | NP_149023.2:p.His43Tyr | |
| NM_033092.3:c.127C>T | NP_149083.2:p.His43Tyr | |
| NM_033093.3:c.127C>T | NP_149084.2:p.His43Tyr | |
| NM_033092.4:c.127C>T | NP_149083.2:p.His43Tyr | |
| NM_033093.4:c.127C>T | NP_149084.2:p.His43Tyr |