Linked Data
dbSNP Id:
rs751934559
ExAC:
6:31918466 A / G
gnomAD v2:
6-31918466-A-G
gnomAD v3:
6-31950689-A-G
gnomAD v4:
6-31950689-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950689A>G , CM000668.2:g.31950689A>G | GRCh38 |
| NC_000006.11:g.31918466A>G , CM000668.1:g.31918466A>G | GRCh37 |
| NC_000006.10:g.32026445A>G | NCBI36 |
| NG_008191.1:g.9746A>G , LRG_136:g.9746A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2087A>G | ||
| ENST00000483004.2:c.1479A>G | ENSP00000419887.2:p.Lys493= | |
| ENST00000698628.1:c.1624+286A>G | ENSP00000513848.1:n.1624+286A>G | |
| ENST00000698629.1:n.1872A>G | ||
| ENST00000698630.1:n.2411A>G | ||
| ENST00000698631.1:n.2412A>G | ||
| ENST00000698632.1:n.3206A>G | ||
| ENST00000698633.1:n.3096A>G | ||
| ENST00000698636.1:n.1917A>G | ||
| ENST00000425368.7:c.1695A>G MANE Select | ENSP00000416561.2:p.Lys565= | |
| ENST00000425368.6:c.1695A>G | ENSP00000416561.2:p.Lys565= | |
| ENST00000456570.5:c.3201A>G | ENSP00000410815.1:p.Lys1067= | |
| ENST00000467360.1:n.821A>G | ||
| ENST00000477310.1:c.2748A>G | ENSP00000418996.1:p.Lys916= | |
| ENST00000483004.1:c.317A>G | ||
| NM_001710.5:c.1695A>G , LRG_136t1:c.1695A>G | NP_001701.2:p.Lys565= | |
| NM_001710.6:c.1695A>G MANE Select | NP_001701.2:p.Lys565= |