Linked Data
dbSNP Id:
rs754863047
ExAC:
6:31901528 G / A
gnomAD v2:
6-31901528-G-A
gnomAD v3:
6-31933751-G-A
gnomAD v4:
6-31933751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31933751G>A , CM000668.2:g.31933751G>A | GRCh38 |
| NC_000006.11:g.31901528G>A , CM000668.1:g.31901528G>A | GRCh37 |
| NC_000006.10:g.32009507G>A | NCBI36 |
| NG_011730.1:g.11263G>A , LRG_26:g.11263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.398G>A | ENSP00000391354.3:p.Gly133Glu | |
| ENST00000452323.7:c.215G>A | ENSP00000392322.2:p.Gly72Glu | |
| ENST00000468407.2:c.584G>A | ENSP00000512075.1:p.Gly195Glu | |
| ENST00000497706.6:c.79G>A | ENSP00000417482.2:p.Gly27Arg | |
| ENST00000695637.1:c.179G>A | ENSP00000512074.1:p.Gly60Glu | |
| ENST00000695638.1:c.584G>A | ENSP00000512076.1:p.Gly195Glu | |
| ENST00000695639.1:n.304G>A | ||
| ENST00000695640.1:n.439G>A | ||
| ENST00000695644.1:c.188G>A | ENSP00000512079.1:p.Gly63Glu | |
| ENST00000299367.10:c.584G>A MANE Select | ENSP00000299367.5:p.Gly195Glu | |
| ENST00000299367.9:c.584G>A | ENSP00000299367.5:p.Gly195Glu | |
| ENST00000383177.7:c.178G>A | ||
| ENST00000411571.6:c.79G>A | ENSP00000388727.2:p.Gly27Arg | |
| ENST00000418949.6:c.584G>A | ENSP00000406190.2:p.Gly195Glu | |
| ENST00000442278.6:c.188G>A | ENSP00000395683.2:p.Gly63Glu | |
| ENST00000447952.6:c.398G>A | ENSP00000391354.2:p.Gly133Glu | |
| ENST00000452202.5:c.215G>A | ENSP00000406121.1:p.Gly72Glu | |
| ENST00000452323.6:c.215G>A | ENSP00000392322.2:p.Gly72Glu | |
| ENST00000456570.5:c.398G>A | ENSP00000410815.1:p.Gly133Glu | |
| ENST00000469372.5:c.79G>A | ENSP00000418923.1:p.Gly27Arg | |
| ENST00000477310.1:c.443-3568G>A | ENSP00000418996.1:n.443-3568G>A | |
| ENST00000482060.5:c.*297G>A | ENSP00000418332.1:n.*297G>A | |
| ENST00000484636.1:c.79G>A | ENSP00000420305.1:p.Gly27Arg | |
| ENST00000494905.1:c.161G>A | ENSP00000419048.1:p.Gly54Glu | |
| ENST00000497706.5:c.79G>A | ENSP00000417482.1:p.Gly27Arg | |
| NM_000063.5:c.584G>A | NP_000054.2:p.Gly195Glu | |
| NM_001145903.2:c.188G>A | NP_001139375.1:p.Gly63Glu | |
| NM_001178063.2:c.215G>A | NP_001171534.1:p.Gly72Glu | |
| NM_001282457.1:c.79G>A | NP_001269386.1:p.Gly27Arg | |
| NM_001282458.1:c.497G>A | NP_001269387.1:p.Gly166Glu | |
| NM_001282459.1:c.584G>A | NP_001269388.1:p.Gly195Glu | |
| NM_000063.6:c.584G>A MANE Select | NP_000054.2:p.Gly195Glu | |
| NM_001145903.3:c.188G>A | NP_001139375.1:p.Gly63Glu | |
| NM_001282457.2:c.79G>A | NP_001269386.1:p.Gly27Arg | |
| NM_001282458.2:c.497G>A | NP_001269387.1:p.Gly166Glu | |
| NM_001282459.2:c.584G>A | NP_001269388.1:p.Gly195Glu | |
| NM_001178063.3:c.215G>A | NP_001171534.1:p.Gly72Glu |