Linked Data
dbSNP Id:
rs1195523174
gnomAD v2:
19-10468535-G-C
gnomAD v3:
19-10357859-G-C
gnomAD v4:
19-10357859-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10357859G>C , CM000681.2:g.10357859G>C | GRCh38 |
| NC_000019.9:g.10468535G>C , CM000681.1:g.10468535G>C | GRCh37 |
| NC_000019.8:g.10329535G>C | NCBI36 |
| NG_007872.1:g.27714C>G , LRG_121:g.27714C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*720C>G | ENSP00000514307.1:n.*720C>G | |
| ENST00000525976.6:c.2371C>G | ENSP00000434831.2:p.Leu791Val | |
| ENST00000527481.3:c.2371C>G | ENSP00000466340.2:p.Leu791Val | |
| ENST00000529370.6:n.2702C>G | ||
| ENST00000529739.2:n.2785C>G | ||
| ENST00000530829.2:c.*1922C>G | ENSP00000436826.2:n.*1922C>G | |
| ENST00000531836.6:c.2371C>G | ENSP00000436175.2:p.Leu791Val | |
| ENST00000533334.2:c.*413C>G | ENSP00000432320.2:n.*413C>G | |
| ENST00000534228.2:n.2785C>G | ||
| ENST00000699354.1:n.473C>G | ||
| ENST00000699355.1:c.*431C>G | ENSP00000514328.1:n.*431C>G | |
| ENST00000699356.1:n.2785C>G | ||
| ENST00000699357.1:n.2785C>G | ||
| ENST00000699358.1:c.2371C>G | ENSP00000514329.1:p.Leu791Val | |
| ENST00000699360.1:c.2371C>G | ENSP00000514331.1:p.Leu791Val | |
| ENST00000525621.6:c.2371C>G MANE Select | ENSP00000431885.1:p.Leu791Val | |
| ENST00000264818.10:c.2371C>G | ENSP00000264818.6:p.Leu791Val | |
| ENST00000524462.5:c.1816C>G | ENSP00000433203.1:p.Leu606Val | |
| ENST00000525621.5:c.2371C>G | ENSP00000431885.1:p.Leu791Val | |
| ENST00000529370.5:c.2371C>G | ENSP00000432728.1:p.Leu791Val | |
| ENST00000529412.1:n.43C>G | ||
| ENST00000533334.1:c.660C>G | ||
| NM_003331.4:c.2371C>G , LRG_121t1:c.2371C>G | NP_003322.3:p.Leu791Val | |
| XM_011528245.1:c.2371C>G | XP_011526547.1:p.Leu791Val | |
| XM_011528246.1:c.2074C>G | XP_011526548.1:p.Leu692Val | |
| XM_011528247.1:c.2074C>G | XP_011526549.1:p.Leu692Val | |
| XM_011528248.1:c.2371C>G | XP_011526550.1:p.Leu791Val | |
| XM_011528249.1:c.1045C>G | XP_011526551.1:p.Leu349Val | |
| XM_011528251.1:c.628C>G | XP_011526553.1:p.Leu210Val | |
| XM_011528246.3:c.2074C>G | XP_011526548.1:p.Leu692Val | |
| XM_011528249.2:c.1045C>G | XP_011526551.1:p.Leu349Val | |
| XR_001753750.1:n.2528C>G | ||
| XR_001753751.1:n.2528C>G | ||
| XR_002958353.1:n.2409C>G | ||
| NM_003331.5:c.2371C>G MANE Select | NP_003322.3:p.Leu791Val | |
| NM_001385197.1:c.2371C>G | NP_001372126.1:p.Leu791Val | |
| NM_001385198.1:c.2371C>G | NP_001372127.1:p.Leu791Val | |
| NM_001385199.1:c.2185C>G | NP_001372128.1:p.Leu729Val | |
| NM_001385200.1:c.2371C>G | NP_001372129.1:p.Leu791Val | |
| NM_001385201.1:c.2173C>G | NP_001372130.1:p.Leu725Val | |
| NM_001385202.1:c.2287C>G | NP_001372131.1:p.Leu763Val | |
| NM_001385203.1:c.2371C>G | NP_001372132.1:p.Leu791Val | |
| NM_001385204.1:c.2371C>G | NP_001372133.1:p.Leu791Val | |
| NM_001385205.1:c.2281C>G | NP_001372134.1:p.Leu761Val | |
| NM_001385206.1:c.2245C>G | NP_001372135.1:p.Leu749Val | |
| NM_001385207.1:c.2353C>G | NP_001372136.1:p.Leu785Val |