Linked Data
dbSNP Id:
rs763870160
ExAC:
7:44186117 C / T
gnomAD v2:
7-44186117-C-T
gnomAD v4:
7-44146518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146518C>T , CM000669.2:g.44146518C>T | GRCh38 |
| NC_000007.13:g.44186117C>T , CM000669.1:g.44186117C>T | GRCh37 |
| NC_000007.12:g.44152642C>T | NCBI36 |
| NG_008847.1:g.47906G>A | |
| NG_008847.2:g.56653G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*962G>A | ENSP00000379142.4:n.*962G>A | |
| ENST00000616242.5:c.*84G>A | ENSP00000482149.2:n.*84G>A | |
| ENST00000683378.1:n.190G>A | ||
| ENST00000345378.7:c.967G>A | ENSP00000223366.2:p.Glu323Lys | |
| ENST00000403799.8:c.964G>A MANE Select | ENSP00000384247.3:p.Glu322Lys | |
| ENST00000671824.1:c.1027G>A | ENSP00000500264.1:p.Glu343Lys | |
| ENST00000673284.1:c.964G>A | ENSP00000499852.1:p.Glu322Lys | |
| ENST00000345378.6:c.967G>A | ENSP00000223366.2:p.Glu323Lys | |
| ENST00000395796.7:c.961G>A | ENSP00000379142.3:p.Glu321Lys | |
| ENST00000403799.7:c.964G>A | ENSP00000384247.3:p.Glu322Lys | |
| ENST00000437084.1:c.913G>A | ENSP00000402840.1:p.Glu305Lys | |
| ENST00000473353.1:n.262G>A | ||
| ENST00000616242.4:c.961G>A | ENSP00000482149.1:p.Glu321Lys | |
| NM_000162.3:c.964G>A | NP_000153.1:p.Glu322Lys | |
| NM_033507.1:c.967G>A | NP_277042.1:p.Glu323Lys | |
| NM_033508.1:c.961G>A | NP_277043.1:p.Glu321Lys | |
| NM_000162.4:c.964G>A | NP_000153.1:p.Glu322Lys | |
| NM_001354800.1:c.964G>A | NP_001341729.1:p.Glu322Lys | |
| NM_001354801.1:c.8+101G>A | NP_001341730.1:n.8+101G>A | |
| NM_033507.2:c.967G>A | NP_277042.1:p.Glu323Lys | |
| NM_033508.2:c.961G>A | NP_277043.1:p.Glu321Lys | |
| NM_000162.5:c.964G>A MANE Select | NP_000153.1:p.Glu322Lys | |
| NM_033507.3:c.967G>A | NP_277042.1:p.Glu323Lys | |
| NM_033508.3:c.961G>A | NP_277043.1:p.Glu321Lys |