Linked Data
ClinVar Variation Id:
356245
dbSNP Id:
rs1042663
ExAC:
6:31905130 G / A
gnomAD v2:
6-31905130-G-A
gnomAD v3:
6-31937353-G-A
gnomAD v4:
6-31937353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31937353G>A , CM000668.2:g.31937353G>A | GRCh38 |
| NC_000006.11:g.31905130G>A , CM000668.1:g.31905130G>A | GRCh37 |
| NC_000006.10:g.32013109G>A | NCBI36 |
| NG_011730.1:g.14865G>A , LRG_26:g.14865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447952.7:c.837G>A (C2) | ENSP00000391354.3:p.Ala279= | |
| ENST00000452323.7:c.381G>A (C2) | ENSP00000392322.2:p.Ala127= | |
| ENST00000468407.2:c.1023G>A (C2) | ENSP00000512075.1:p.Ala341= | |
| ENST00000497706.6:c.384G>A (C2) | ENSP00000417482.2:p.Ala128= | |
| ENST00000695637.1:c.618G>A (C2) | ENSP00000512074.1:p.Ala206= | |
| ENST00000695638.1:c.1023G>A (C2) | ENSP00000512076.1:p.Ala341= | |
| ENST00000695644.1:c.627G>A (C2) | ENSP00000512079.1:p.Ala209= | |
| ENST00000299367.10:c.1023G>A (C2) MANE Select | ENSP00000299367.5:p.Ala341= | |
| ENST00000299367.9:c.1023G>A (C2) | ENSP00000299367.5:p.Ala341= | |
| ENST00000383177.7:c.344G>A (C2) | ||
| ENST00000411571.6:c.*263G>A (C2) | ENSP00000388727.2:n.*263G>A | |
| ENST00000442278.6:c.627G>A (C2) | ENSP00000395683.2:p.Ala209= | |
| ENST00000452323.6:c.381G>A (C2) | ENSP00000392322.2:p.Ala127= | |
| ENST00000456570.5:c.564G>A | ENSP00000410815.1:p.Ala188= | |
| ENST00000469372.5:c.285G>A (C2) | ENSP00000418923.1:p.Ala95= | |
| ENST00000477310.1:c.477G>A | ENSP00000418996.1:p.Ala159= | |
| ENST00000482060.5:c.*736G>A (C2) | ENSP00000418332.1:n.*736G>A | |
| ENST00000485690.5:c.191G>A (C2) | ||
| ENST00000486124.5:n.1299G>A (C2) | ||
| ENST00000497706.5:c.384G>A (C2) | ENSP00000417482.1:p.Ala128= | |
| NM_000063.5:c.1023G>A (C2) | NP_000054.2:p.Ala341= | |
| NM_001145903.2:c.627G>A (C2) | NP_001139375.1:p.Ala209= | |
| NM_001178063.2:c.381G>A (C2) | NP_001171534.1:p.Ala127= | |
| NM_001282457.1:c.285G>A (C2) | NP_001269386.1:p.Ala95= | |
| NM_001282458.1:c.936G>A (C2) | NP_001269387.1:p.Ala312= | |
| NR_104191.1:n.541-1951C>T (C2-AS1) | ||
| NM_000063.6:c.1023G>A (C2) MANE Select | NP_000054.2:p.Ala341= | |
| NM_001145903.3:c.627G>A (C2) | NP_001139375.1:p.Ala209= | |
| NM_001282457.2:c.285G>A (C2) | NP_001269386.1:p.Ala95= | |
| NM_001282458.2:c.936G>A (C2) | NP_001269387.1:p.Ala312= | |
| NM_001178063.3:c.381G>A (C2) | NP_001171534.1:p.Ala127= |