Linked Data
dbSNP Id:
rs763514835
ExAC:
6:31918460 G / A
gnomAD v2:
6-31918460-G-A
gnomAD v4:
6-31950683-G-A
COSMIC:
COSM3624885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950683G>A , CM000668.2:g.31950683G>A | GRCh38 |
| NC_000006.11:g.31918460G>A , CM000668.1:g.31918460G>A | GRCh37 |
| NC_000006.10:g.32026439G>A | NCBI36 |
| NG_008191.1:g.9740G>A , LRG_136:g.9740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2081G>A | ||
| ENST00000483004.2:c.1473G>A | ENSP00000419887.2:p.Gly491= | |
| ENST00000698628.1:c.1624+280G>A | ENSP00000513848.1:n.1624+280G>A | |
| ENST00000698629.1:n.1866G>A | ||
| ENST00000698630.1:n.2405G>A | ||
| ENST00000698631.1:n.2406G>A | ||
| ENST00000698632.1:n.3200G>A | ||
| ENST00000698633.1:n.3090G>A | ||
| ENST00000698636.1:n.1911G>A | ||
| ENST00000425368.7:c.1689G>A MANE Select | ENSP00000416561.2:p.Gly563= | |
| ENST00000425368.6:c.1689G>A | ENSP00000416561.2:p.Gly563= | |
| ENST00000456570.5:c.3195G>A | ENSP00000410815.1:p.Gly1065= | |
| ENST00000467360.1:n.815G>A | ||
| ENST00000477310.1:c.2742G>A | ENSP00000418996.1:p.Gly914= | |
| ENST00000483004.1:c.311G>A | ||
| NM_001710.5:c.1689G>A , LRG_136t1:c.1689G>A | NP_001701.2:p.Gly563= | |
| NM_001710.6:c.1689G>A MANE Select | NP_001701.2:p.Gly563= |