Linked Data
dbSNP Id:
rs774614309
ExAC:
7:44185209 G / T
gnomAD v2:
7-44185209-G-T
gnomAD v4:
7-44145610-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145610G>T , CM000669.2:g.44145610G>T | GRCh38 |
| NC_000007.13:g.44185209G>T , CM000669.1:g.44185209G>T | GRCh37 |
| NC_000007.12:g.44151734G>T | NCBI36 |
| NG_008847.1:g.48814C>A | |
| NG_008847.2:g.57561C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1138C>A | ENSP00000379142.4:n.*1138C>A | |
| ENST00000616242.5:c.*260C>A | ENSP00000482149.2:n.*260C>A | |
| ENST00000683378.1:n.366C>A | ||
| ENST00000336642.9:c.174C>A | ENSP00000338009.5:p.His58Gln | |
| ENST00000345378.7:c.1143C>A | ENSP00000223366.2:p.His381Gln | |
| ENST00000403799.8:c.1140C>A MANE Select | ENSP00000384247.3:p.His380Gln | |
| ENST00000671824.1:c.1203C>A | ENSP00000500264.1:p.His401Gln | |
| ENST00000672743.1:n.152C>A | ||
| ENST00000673284.1:c.1140C>A | ENSP00000499852.1:p.His380Gln | |
| ENST00000336642.8:c.192C>A | ENSP00000338009.4:p.His64Gln | |
| ENST00000345378.6:c.1143C>A | ENSP00000223366.2:p.His381Gln | |
| ENST00000395796.7:c.1137C>A | ENSP00000379142.3:p.His379Gln | |
| ENST00000403799.7:c.1140C>A | ENSP00000384247.3:p.His380Gln | |
| ENST00000437084.1:c.1089C>A | ENSP00000402840.1:p.His363Gln | |
| ENST00000459642.1:n.520C>A | ||
| ENST00000616242.4:c.1137C>A | ENSP00000482149.1:p.His379Gln | |
| NM_000162.3:c.1140C>A | NP_000153.1:p.His380Gln | |
| NM_033507.1:c.1143C>A | NP_277042.1:p.His381Gln | |
| NM_033508.1:c.1137C>A | NP_277043.1:p.His379Gln | |
| NM_000162.4:c.1140C>A | NP_000153.1:p.His380Gln | |
| NM_001354800.1:c.1140C>A | NP_001341729.1:p.His380Gln | |
| NM_001354801.1:c.129C>A | NP_001341730.1:p.His43Gln | |
| NM_001354802.1:c.-1C>A | NP_001341731.1:n.-1C>A | |
| NM_001354803.1:c.174C>A | NP_001341732.1:p.His58Gln | |
| NM_033507.2:c.1143C>A | NP_277042.1:p.His381Gln | |
| NM_033508.2:c.1137C>A | NP_277043.1:p.His379Gln | |
| XM_024446707.1:c.-1C>A | XP_024302475.1:n.-1C>A | |
| NM_000162.5:c.1140C>A MANE Select | NP_000153.1:p.His380Gln | |
| NM_033507.3:c.1143C>A | NP_277042.1:p.His381Gln | |
| NM_033508.3:c.1137C>A | NP_277043.1:p.His379Gln | |
| NM_001354803.2:c.174C>A | NP_001341732.1:p.His58Gln |