Linked Data
dbSNP Id:
rs760207885
ExAC:
19:10464806 G / C
gnomAD v2:
19-10464806-G-C
gnomAD v4:
19-10354130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10354130G>C , CM000681.2:g.10354130G>C | GRCh38 |
| NC_000019.9:g.10464806G>C , CM000681.1:g.10464806G>C | GRCh37 |
| NC_000019.8:g.10325806G>C | NCBI36 |
| NG_007872.1:g.31443C>G , LRG_121:g.31443C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1169C>G | ENSP00000514307.1:n.*1169C>G | |
| ENST00000525976.6:c.2820C>G | ENSP00000434831.2:p.His940Gln | |
| ENST00000527481.3:c.2820C>G | ENSP00000466340.2:p.His940Gln | |
| ENST00000529370.6:n.4196C>G | ||
| ENST00000529739.2:n.3234C>G | ||
| ENST00000530829.2:c.*2371C>G | ENSP00000436826.2:n.*2371C>G | |
| ENST00000531836.6:c.2820C>G | ENSP00000436175.2:p.His940Gln | |
| ENST00000533334.2:c.*862C>G | ENSP00000432320.2:n.*862C>G | |
| ENST00000534228.2:n.4279C>G | ||
| ENST00000699354.1:n.922C>G | ||
| ENST00000699355.1:c.*1925C>G | ENSP00000514328.1:n.*1925C>G | |
| ENST00000699356.1:n.3234C>G | ||
| ENST00000699357.1:n.4279C>G | ||
| ENST00000699358.1:c.2820C>G | ENSP00000514329.1:p.His940Gln | |
| ENST00000699359.1:c.26C>G | ||
| ENST00000699360.1:c.2820C>G | ENSP00000514331.1:p.His940Gln | |
| ENST00000699368.1:c.24C>G | ENSP00000514335.1:p.His8Gln | |
| ENST00000525621.6:c.2820C>G MANE Select | ENSP00000431885.1:p.His940Gln | |
| ENST00000264818.10:c.2820C>G | ENSP00000264818.6:p.His940Gln | |
| ENST00000524462.5:c.2265C>G | ENSP00000433203.1:p.His755Gln | |
| ENST00000525621.5:c.2820C>G | ENSP00000431885.1:p.His940Gln | |
| ENST00000527481.2:c.116C>G | ||
| ENST00000529412.1:n.492C>G | ||
| ENST00000530560.5:c.249C>G | ENSP00000465291.1:p.His83Gln | |
| NM_003331.4:c.2820C>G , LRG_121t1:c.2820C>G | NP_003322.3:p.His940Gln | |
| XM_011528245.1:c.2820C>G | XP_011526547.1:p.His940Gln | |
| XM_011528246.1:c.2523C>G | XP_011526548.1:p.His841Gln | |
| XM_011528247.1:c.2523C>G | XP_011526549.1:p.His841Gln | |
| XM_011528248.1:c.2820C>G | XP_011526550.1:p.His940Gln | |
| XM_011528249.1:c.1494C>G | XP_011526551.1:p.His498Gln | |
| XM_011528251.1:c.1077C>G | XP_011526553.1:p.His359Gln | |
| XM_011528246.3:c.2523C>G | XP_011526548.1:p.His841Gln | |
| XM_011528249.2:c.1494C>G | XP_011526551.1:p.His498Gln | |
| XR_001753750.1:n.2977C>G | ||
| XR_001753751.1:n.2977C>G | ||
| XR_002958353.1:n.3903C>G | ||
| NM_003331.5:c.2820C>G MANE Select | NP_003322.3:p.His940Gln | |
| NM_001385197.1:c.2820C>G | NP_001372126.1:p.His940Gln | |
| NM_001385198.1:c.2820C>G | NP_001372127.1:p.His940Gln | |
| NM_001385199.1:c.2634C>G | NP_001372128.1:p.His878Gln | |
| NM_001385200.1:c.2817C>G | NP_001372129.1:p.His939Gln | |
| NM_001385201.1:c.2622C>G | NP_001372130.1:p.His874Gln | |
| NM_001385202.1:c.2736C>G | NP_001372131.1:p.His912Gln | |
| NM_001385203.1:c.2901C>G | NP_001372132.1:p.His967Gln | |
| NM_001385204.1:c.3030C>G | NP_001372133.1:p.His1010Gln | |
| NM_001385205.1:c.2730C>G | NP_001372134.1:p.His910Gln | |
| NM_001385206.1:c.2694C>G | NP_001372135.1:p.His898Gln | |
| NM_001385207.1:c.2802C>G | NP_001372136.1:p.His934Gln |