Linked Data
dbSNP Id:
rs370507491
ExAC:
3:193380720 A / T
gnomAD v3:
3-193662931-A-T
gnomAD v4:
3-193662931-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193662931A>T , CM000665.2:g.193662931A>T | GRCh38 |
| NC_000003.11:g.193380720A>T , CM000665.1:g.193380720A>T | GRCh37 |
| NC_000003.10:g.194863414A>T | NCBI36 |
| NG_011605.1:g.74788A>T , LRG_337:g.74788A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2630A>T MANE Select | ENSP00000355324.2:p.Glu877Val | |
| ENST00000361828.7:c.2465A>T | ENSP00000354429.3:p.Glu822Val | |
| ENST00000361908.8:c.2576A>T | ENSP00000354681.3:p.Glu859Val | |
| ENST00000392436.7:c.2465A>T | ENSP00000376231.3:p.Glu822Val | |
| ENST00000392437.6:c.2519A>T | ENSP00000376232.2:p.Glu840Val | |
| ENST00000642289.1:c.2404A>T | ||
| ENST00000642445.1:c.2465A>T | ENSP00000495535.1:p.Glu822Val | |
| ENST00000642593.1:c.*690A>T | ENSP00000494273.1:n.*690A>T | |
| ENST00000643329.1:c.2147A>T | ENSP00000493673.1:p.Glu716Val | |
| ENST00000643737.1:c.*2546A>T | ENSP00000494210.1:n.*2546A>T | |
| ENST00000644595.1:c.2465A>T | ENSP00000494121.1:p.Glu822Val | |
| ENST00000644629.1:c.2052A>T | ||
| ENST00000644841.1:c.*949A>T | ENSP00000493988.1:n.*949A>T | |
| ENST00000644959.1:c.2459A>T | ||
| ENST00000645553.1:c.2480A>T | ENSP00000494725.1:p.Glu827Val | |
| ENST00000646085.1:c.*1943A>T | ENSP00000494509.1:n.*1943A>T | |
| ENST00000646277.1:c.*1066A>T | ENSP00000495289.1:n.*1066A>T | |
| ENST00000646544.1:c.1453A>T | ||
| ENST00000646699.1:c.2404A>T | ||
| ENST00000646793.1:c.2357A>T | ENSP00000494512.1:p.Glu786Val | |
| ENST00000361150.6:c.2468A>T | ENSP00000354781.2:p.Glu823Val | |
| ENST00000361510.6:c.2630A>T | ENSP00000355324.2:p.Glu877Val | |
| ENST00000361715.6:c.2522A>T | ENSP00000355311.2:p.Glu841Val | |
| ENST00000361828.6:c.2519A>T | ENSP00000354429.2:p.Glu840Val | |
| ENST00000361908.7:c.2576A>T | ENSP00000354681.3:p.Glu859Val | |
| ENST00000392438.7:c.2465A>T | ENSP00000376233.3:p.Glu822Val | |
| ENST00000445863.1:c.41A>T | ENSP00000398358.1:p.Glu14Val | |
| NM_015560.2:c.2465A>T , LRG_337t1:c.2465A>T | NP_056375.2:p.Glu822Val | |
| NM_130831.2:c.2357A>T | NP_570844.1:p.Glu786Val | |
| NM_130832.2:c.2411A>T | NP_570845.1:p.Glu804Val | |
| NM_130833.2:c.2468A>T | NP_570846.1:p.Glu823Val | |
| NM_130834.2:c.2519A>T | NP_570847.2:p.Glu840Val | |
| NM_130835.2:c.2522A>T | NP_570848.1:p.Glu841Val | |
| NM_130836.2:c.2576A>T | NP_570849.2:p.Glu859Val | |
| NM_130837.2:c.2630A>T , LRG_337t2:c.2630A>T | NP_570850.2:p.Glu877Val | |
| XM_011512863.1:c.2630A>T | XP_011511165.1:p.Glu877Val | |
| XM_011512864.1:c.2576A>T | XP_011511166.1:p.Glu859Val | |
| XM_011512865.1:c.2519A>T | XP_011511167.1:p.Glu840Val | |
| XM_011512866.1:c.2468A>T | XP_011511168.1:p.Glu823Val | |
| XM_011512867.1:c.2465A>T | XP_011511169.1:p.Glu822Val | |
| XM_011512868.1:c.2357A>T | XP_011511170.1:p.Glu786Val | |
| XR_924835.1:n.582+5989T>A | ||
| NM_001354663.1:c.2096A>T | NP_001341592.1:p.Glu699Val | |
| NM_001354664.1:c.2093A>T | NP_001341593.1:p.Glu698Val | |
| XR_001740158.2:n.2884A>T | ||
| XR_001740159.2:n.2719A>T | ||
| XR_001741072.1:n.601-2846T>A | ||
| XR_001741074.1:n.475+7877T>A | ||
| XR_924835.2:n.600+5989T>A | ||
| NM_001354663.2:c.2096A>T | NP_001341592.1:p.Glu699Val | |
| NM_001354664.2:c.2093A>T | NP_001341593.1:p.Glu698Val | |
| NM_130831.3:c.2357A>T | NP_570844.1:p.Glu786Val | |
| NM_130832.3:c.2411A>T | NP_570845.1:p.Glu804Val | |
| NM_130834.3:c.2519A>T | NP_570847.2:p.Glu840Val | |
| NM_130836.3:c.2576A>T | NP_570849.2:p.Glu859Val | |
| NM_015560.3:c.2465A>T | NP_056375.2:p.Glu822Val | |
| NM_130833.3:c.2468A>T | NP_570846.1:p.Glu823Val | |
| NM_130835.3:c.2522A>T | NP_570848.1:p.Glu841Val | |
| NM_130837.3:c.2630A>T MANE Select | NP_570850.2:p.Glu877Val |